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title |
year |
| Details |
Exploring the Latino asthma paradox: Signifi cant interactions between ge... |
2016 |
| Details |
Exome-wide association analysis of cardiac structural traits in a large he... |
2016 |
| Details |
Inheritance patterns may not always be as expected: Diagnostic exome seque... |
2016 |
| Details |
allele frequencies in the Asian population.... |
2016 |
| Details |
Integration of genetic, epigenetic, and transcriptional variation in the c... |
2016 |
| Details |
Genome-wide study of parental origin-specifi c allelic associations with ... |
2016 |
| Details |
JustOrthologs: A fast, accurate, and user-friendly ortholog-identifi ca- t... |
2016 |
| Details |
The role of the ENCODE Data Coordination Center.... |
2016 |
| Details |
causes a new form of spondylometaphyseal dysplasia with corneal clouding.... |
2016 |
| Details |
as responsible gene for new neurocutaneous syndrome with learning disorde... |
2016 |
| Details |
package genMOSS for Genome-wide Association Studies (GWAS).... |
2016 |
| Details |
More effi cient diagnosis of patients with hearing and vision loss: Use o... |
2016 |
| Details |
A change in fetal risk after prenatal diagnosis: A case of HbS/City of Hop... |
2016 |
| Details |
Modeling prediction error improves power of transcriptome-wide association... |
2016 |
| Details |
Defi ning updated risk profi les by linking contemporary cohorts with his... |
2016 |
| Details |
Genetic analysis of mitochondrial disorder in Japanese population.... |
2016 |
| Details |
Pleiotropic noncoding regulatory elements are under purifying natural sele... |
2016 |
| Details |
A common genetic basis between neurodevelopmental disorders of childhood.... |
2016 |
| Details |
Cumulative impact of red blood cell polymorphisms in resistance and suscep... |
2016 |
| Details |
Benchmarking of mutation calling methods with NGS data.... |
2016 |
| Details |
Integrated metadata-driven access of ENCODE, modENCODE, REMC, GGR and modE... |
2016 |
| Details |
Whole exome sequencing ends the diagnostic odyssey for an infant with oste... |
2016 |
| Details |
gene in a male patient with multiple congenital anomalies, intellectual ... |
2016 |
| Details |
HERVnGoSeq: Identifying and mapping unfi xed HERV elements in the genome ... |
2016 |
| Details |
Pharmacogenomics of age-related macular degeneration: A systemat- ic review... |
2016 |
| Details |
Clinical utilization of NGS in Preimplantation Genetic Diagnosis (PGD)/ Scr... |
2016 |
| Details |
Meta-imputation: A fl exible approach to combine genotype data imputed ag... |
2016 |
| Details |
Assessing the causal relationship between obesity and venous throm- boembol... |
2016 |
| Details |
RNA-seq as a tool for diagnostically intractable cases of Duchenne Muscula... |
2016 |
| Details |
Analysis of global ancestry, ethno-linguistics, and migration correlates a... |
2016 |
| Details |
Whole genome sequencing and rare variant discovery in the ASPIRE au- tism s... |
2016 |
| Details |
Parent-of-origin eff ect in asthma - GWAS meta-analysis in three Cana- dia... |
2016 |
| Details |
Sparse polygenic modeling approaches are highly eff ective for priori- tiz... |
2016 |
| Details |
Gestational age acceleration in neonates predicts NICU course.... |
2016 |
| Details |
mutations in os- teogenesis imperfecta with increased bone mineral density... |
2016 |
| Details |
can alternately cause brachydactyly type E or synpolydactyly in diff ere... |
2016 |
| Details |
Assessing clinically relevant variation in 52,000 individuals from over 10... |
2016 |
| Details |
Treatment research reporting trends for genetic eye diseases and patient s... |
2016 |
| Details |
Evaluating early pregnancy loss by whole exome sequencing.... |
2016 |
| Details |
Bayesian analysis of genetic association across tree-structured routine he... |
2016 |
| Details |
Functional enrichment analysis of genome-wide association study iden- tifi ... |
2016 |
| Details |
variants associated with development delay, seizures and extended lifespa... |
2016 |
| Details |
Temporary pulses of accelerated mutagenesis in human and great ape populat... |
2016 |
| Details |
gene in Parkinsons disease.... |
2016 |
| Details |
Background... |
2016 |
| Details |
Kmer-SSR: An effi cient tool for perfect SSR detection in genetic se- que... |
2016 |
| Details |
DNA methylation analysis of Sox2 regulatory regions during osteogen- ic dif... |
2016 |
| Details |
variant leading to inherited bilateral atypical hyaline cartilage neoplas... |
2016 |
| Details |
that underlies familial lymphangiomatosis.... |
2016 |
| Details |
Identifying potentially signifi cant causative chromosomal regions from G... |
2016 |
| Details |
Creating a medically actionable genetic screening panel for healthy indivi... |
2016 |
| Details |
Identifi cation and characterization of rare hemoglobin variants: Experi- ... |
2016 |
| Details |
Improved imputation accuracy of rare and low-frequency variants using popu... |
2016 |
| Details |
explains 3.7-5.3% of the variance in GDF-15 in two large CV outcome trial... |
2016 |
| Details |
Diagnosis of mitochondrial deletion syndromes by concurrent mitochon- drial... |
2016 |
| Details |
Detecting polygenic adaptation using GWAS data.... |
2016 |
| Details |
-SNP mutations in Amyotrophic Lateral Sclerosis.... |
2016 |
| Details |
Genome-wide association study of multivariate measures of human facial mor... |
2016 |
| Details |
Interactive analytics for very large scale genomic data.... |
2016 |
| Details |
The validation of array determined, diff erentially methylated CpG sites ... |
2016 |
| Details |
Mutation in the gene for osteoprotegerin in two families with calcium pyro... |
2016 |
| Details |
splicing variant associated with an atypical familial presen- tation of Di... |
2016 |
| Details |
SlopeCCA Sparse CCA with false discovery rate control.... |
2016 |
| Details |
Coenzyme Q10 and pro-infl ammatory markers in children with Down syndrome... |
2016 |
| Details |
Preconception carrier testing using genome sequencing: What cat- egories of... |
2016 |
| Details |
Statistical tests for Hardy-Weinberg equilibrium at X-chromosomal genetic ... |
2016 |
| Details |
Background: ... |
2016 |
| Details |
Development of a targeted next generation sequencing (TNGS) strat- egy for ... |
2016 |
| Details |
Y-chromosomal composition of mediaeval and contemporary popula- tions in No... |
2016 |
| Details |
Novel gene discovery in familial amyotrophic lateral sclerosis.... |
2016 |
| Details |
infection in immunosuppressed individuals from hyper-endemic regions of ... |
2016 |
| Details |
Deriving genetic ancestry using deep learning on electronic health records... |
2016 |
| Details |
Methylome analysis in non-syndromic cleft lip/palate shows methyla- tion di... |
2016 |
| Details |
Nonsense mutation in WTX gene and osteopathy striata with cranial sclerosi... |
2016 |
| Details |
gene causing microcephaly-capillary malformation syndrome.... |
2016 |
| Details |
Simultaneous genetic regulatory networks inference and genomic hub identif... |
2016 |
| Details |
A taxonomy of medical uncertainties in clinical genome sequencing.... |
2016 |
| Details |
A systematic evaluation of RNA quality of human conceptual tissue and its ... |
2016 |
| Details |
A two-stage hidden Markov model design for biomarker detection, with appli... |
2016 |
| Details |
Genotype-phenotype in Marfan syndrome patients with causative mu- tations f... |
2016 |
| Details |
Can whole genome sequencing end the diagnostic odyssey for pae- diatric mit... |
2016 |
| Details |
Extremely rare variants reveal sequence context and genomic features that ... |
2016 |
| Details |
Association of genetic factors increasing serum glutamine metabolite level... |
2016 |
| Details |
Comparison of collection methods and whole genome amplifi cation for phar... |
2016 |
| Details |
Mutation visualization on 3D protein structures in the context of known pa... |
2016 |
| Details |
Principal component informed dimensionality reduction approach for 450k me... |
2016 |
| Details |
Corner fracture type spondylometaphyseal dysplasia heterogeneous disorder... |
2016 |
| Details |
frameshift mutation in siblings causes syndromic cerebral and cerebellar ... |
2016 |
| Details |
A spectrum of common and rare germ-line variation in a group of Puerto Ric... |
2016 |
| Details |
Metabolic diet app suite for inborn errors of amino acid metabolism.... |
2016 |
| Details |
knockdown alters gene expression in GnRH neuron migration.... |
2016 |
| Details |
Canonical correlation analysis separates genetic and non-genetic confounde... |
2016 |
| Details |
Meta-analysis of genome-wide association studies in diff erent ethnicities... |
2016 |
| Details |
Novallele HRM-based genotyping assays for detection of mitochon- drial DNA ... |
2016 |
| Details |
Evidence for detailed historical European population structure from large-... |
2016 |
| Details |
Next-generation sequencing of Alzheimers and Parkinsons Disease genes in n... |
2016 |
| Details |
Clinical, social and genomic factors associated with obesity at 12 months ... |
2016 |
| Details |
A framework for asynchronous software tested with bioin- formatics use cas... |
2016 |
| Details |
Conjoint SNP-SNP eff ects infl uence the human methylome - Results from ... |
2016 |
| Details |
Whole genome sequencing identifi es a paracentric mcro-inversion in a Chi... |
2016 |
| Details |
Balanced X-autosome translocation suggests association between AMMECR1 and... |
2016 |
| Details |
Genetic ancestry aff ects the predictive power of PRS in Latinas.... |
2016 |
| Details |
A collaborative genetic and genomic education pilot for health insurer sta... |
2016 |
| Details |
aff ected implantation under the infl uence of N-acetyl cysteine.... |
2016 |
| Details |
Interactive eff ect between ATPase-related genes and early-life tobac- co ... |
2016 |
| Details |
Re- sults: ... |
2016 |
| Details |
deletions in patients with hearing loss.... |
2016 |
| Details |
Mutation load and health outcomes are modulated by allele specifi c expre... |
2016 |
| Details |
in the absence of cocaine and opiate dependency.... |
2016 |
| Details |
The global spectrum of coding region pharmacogenomic diversity.... |
2016 |
| Details |
A suite of programs for pre- and post-Imputation data checking.... |
2016 |
| Details |
Discussion:... |
2016 |
| Details |
Backgrouds... |
2016 |
| Details |
are associated with laterality defects in humans.... |
2016 |
| Details |
Genetic association between ND3 gene polymorphisms and the risk of gastric... |
2016 |
| Details |
Risk assessment and counselling training for non-genetics healthcare profe... |
2016 |
| Details |
Statement of purpose... |
2016 |
| Details |
Large scale brain eQTL meta-analysis from multiple RNA-sequencing cohorts.... |
2016 |
| Details |
Pharmacogenetics of time to Acute Coronary Syndrome recurrence (PhACS): A ... |
2016 |
| Details |
Next-generation sequencing analysis for mitochondrial disorders in adult J... |
2016 |
| Details |
Using whole-genome sequencing to shed insight on the complex pre- history o... |
2016 |
| Details |
LCM coupled with single-cell gene expression assay: Isolating neurons from... |
2016 |
| Details |
Implementation of pharmacogenetics with clinical decision support in prima... |
2016 |
| Details |
Hail: An open-source framework for scalable genetic data analysis.... |
2016 |
| Details |
Puberty-associated DNA methylation changes in females are near estrogen re... |
2016 |
| Details |
Vosoritide in children with achondroplasia: Updated results from an ongoin... |
2016 |
| Details |
) gene is associated with Tatton-Brown-Rahman syndrome.... |
2016 |
| Details |
genotyping of breast and ovarian cancer in underserved women from Latin A... |
2016 |
| Details |
Utilization of telehealth in a translational genome-wide sequencing clinic ... |
2016 |
| Details |
Methods used... |
2016 |
| Details |
A comparison of methods for genome-wide association mapping in the PAGE st... |
2016 |
| Details |
Genetic correlation of cardiovascular and metabolic traits with anthropo- m... |
2016 |
| Details |
defects in Chinese subjects with congenital hearing loss using MPS.... |
2016 |
| Details |
for forensic Y-STR markers.... |
2016 |
| Details |
The evolving genetic risk landscape of sporadic amyotrophic lateral sclero... |
2016 |
| Details |
Genome-wide association study of sleep duration in the 14,000 Jap- anese ge... |
2016 |
| Details |
Alternate-scaff old aware variant calling in whole genome sequencing.... |
2016 |
| Details |
Epigenetic signature of preterm-birth in adult twins.... |
2016 |
| Details |
A probably new type of mesomelic dysplasia with acral synostoses with scol... |
2016 |
| Details |
Background:... |
2016 |
| Details |
genes with breast cancer risk in Mexican obesity women: Preliminary resu... |
2016 |
| Details |
Familial Creutzfeldt-Jakob Disease: Case report and consequences of post m... |
2016 |
| Details |
Summary of results... |
2016 |
| Details |
A novel statistical method for genetic pleiotropic analysis of multiple ph... |
2016 |
| Details |
Fine-scale genetic population structure and genetic risk for coronary ar- t... |
2016 |
| Details |
mutations identifi ed by targeted NGS approach in an Italian cohort with... |
2016 |
| Details |
Genomic insights into the population structure and history of the Irish Tr... |
2016 |
| Details |
mutations in Alzheimer's disease.... |
2016 |
| Details |
Introducing SG10K: Cataloging genetic diversity and population struc- tures... |
2016 |
| Details |
Development of a long indel detection method using the realignment of the ... |
2016 |
| Details |
Genetic variation in MHC proteins is associated with T-cell receptor expre... |
2016 |
| Details |
Clinical reports.... |
2016 |
| Details |
Con- clusion:... |
2016 |
| Details |
Acquisition of clonal driver mutations in VHL syndrome clear-cell renal ce... |
2016 |
| Details |
PhenoDB - A web-based next generation sequencing educational platform for ... |
2016 |
| Details |
Conclusion:... |
2016 |
| Details |
Improving power for rare variant tests by integrating external controls.... |
2016 |
| Details |
and their association with car- diovascular-related mortality and morbidi... |
2016 |
| Details |
causing Retinitis Pigmentosa detected with whole exome sequencing.... |
2016 |
| Details |
Evolutionary history of Tibetans inferred from whole-genome sequenc- ing.... |
2016 |
| Details |
A method for the identifi cation of variants in Alzheimers disease candid... |
2016 |
| Details |
Analysis of expression quantitative trait loci in the human eye.... |
2016 |
| Details |
Genotype data quality analysis at the next order of magnitude in the Depar... |
2016 |
| Details |
imprinted locus in a mouse model.... |
2016 |
| Details |
Role of next generation sequencing (NGS) in genetic testing and coun- selin... |
2016 |
| Details |
mutation: Description of a Brazilian case with mild elevation of alkaline... |
2016 |
| Details |
gene aff ects the risk of bladder cancer: A case-control study a meta-an... |
2016 |
| Details |
Scaling genetic counseling: A human-centered approach to creating an elect... |
2016 |
| Details |
First day urine of discordant monozygotic twin refl ected fetal metabolic ... |
2016 |
| Details |
Integration of summary data from GWAS and eQTL studies predicts complex tr... |
2016 |
| Details |
A reference-agnostic and rapidly queryable NGS read data format allows for... |
2016 |
| Details |
Collaboration of diff erent pathogenic variations can cause Retinitic Pig... |
2016 |
| Details |
: Using particle fi lters to infer historic population sizes and migra- ... |
2016 |
| Details |
genes - Genetic markers for severity of multiple sclerosis?... |
2016 |
| Details |
The scope and mechanism of inbreeding depression in humans.... |
2016 |
| Details |
Comprehensive analysis of the spatial distribution of missense variants in... |
2016 |
| Details |
Chromatin state variability: A guide to uncover non-coding functional geno... |
2016 |
| Details |
Studying the genetic basis of idiopathic short stature using whole exome s... |
2016 |
| Details |
are associated with features over- lapping with Noonan syndrome.... |
2016 |
| Details |
mutation carriers.... |
2016 |
| Details |
The Brazilian Initiative on Precision Medicine (BIPMed): The fi rst pub- l... |
2016 |
| Details |
overexpression.... |
2016 |
| Details |
Are population-specifi c panels of exomes useful to identify disease vari-... |
2016 |
| Details |
Using big data to interpret genomes with medical records for therapeutic t... |
2016 |
| Details |
Phenotype-driven analysis of whole genome sequencing to fi nd missing all... |
2016 |
| Details |
How molten is the pot? Analyzing self-reported and genetic ancestry of ind... |
2016 |
| Details |
: The Alzheimers Disease Sequencing Project Dominican families.... |
2016 |
| Details |
Genetic overlap between dizygotic twinning and BMI, height and smok- ing: R... |
2016 |
| Details |
Multi-omic data exploration using pathway and correlation analysis in Agil... |
2016 |
| Details |
Toll-like receptor signaling pathway genes in association with trauma indu... |
2016 |
| Details |
MEP1A mutation identifi ed by whole exome sequencing in a family with sli... |
2016 |
| Details |
cause a novel rasop- athy closely resembling Noonan syndrome with loose an... |
2016 |
| Details |
mutations are a dominant cause of diff use gastric cancer in the New Zea... |
2016 |
| Details |
A community genomics initiative using blood banks for recruitment en- ables... |
2016 |
| Details |
Performance evaluation and clinical implementation of a new paired-end MPS... |
2016 |
| Details |
Adjustment for confounders in random forests analysis.... |
2016 |
| Details |
Evaluation of coronary artery disease risk loci as targets of current and ... |
2016 |
| Details |
Exome sequencing in a Turkish family revealed an autosomal dominant juveni... |
2016 |
| Details |
Parallels between processes of genetic and linguistic admixture in Cape Ve... |
2016 |
| Details |
Conclusions:... |
2016 |
| Details |
Identifying genetic associations with variability in metabolic health and ... |
2016 |
| Details |
The UCSC Genome Browser: New display modes to facilitate study of clinical... |
2016 |
| Details |
Altered imprinting in miscarried products of conception.... |
2016 |
| Details |
are associated with isolated syndactyly with fusion of the third and four... |
2016 |
| Details |
Background... |
2016 |
| Details |
Frequency of mutations in multi-gene panel testing of 3,600 individu- als f... |
2016 |
| Details |
Development of Korean genome reference material.... |
2016 |
| Details |
mutations.... |
2016 |
| Details |
X-inclusion: Integrating X chromosome in whole genome association studies ... |
2016 |
| Details |
Rare variants in the non-coding sequence and plasma lipids: An analysis of... |
2016 |
| Details |
Conclu- sions:... |
2016 |
| Details |
Characterization of local adaptation in Africa from whole genome sequence ... |
2016 |
| Details |
Association of CpG-related SNPs (CGSs) with Alzheimer disease.... |
2016 |
| Details |
Gene expression response to rhinovirus infection diff ers between Chronic... |
2016 |
| Details |
EGA: Towards distributed consented genetic and phenotypic data access.... |
2016 |
| Details |
DNA methylation gives insight into diff erent etiologies in early-onset an... |
2016 |
| Details |
gene and air pollutants in Paget's disease of bone.... |
2016 |
| Details |
Methods and Results... |
2016 |
| Details |
Recurrent somatic copy number variation analysis identifi es risk genes t... |
2016 |
| Details |
Lowering barriers to accessing genomic information: Enabling a search func... |
2016 |
| Details |
Development of a national NIPT in Brazil.... |
2016 |
| Details |
Functional regression method for whole genome epistatic eQTL analysis with... |
2016 |
| Details |
Label-free quantitative proteomic profi ling of discordant monozygo- ic tw... |
2016 |
| Details |
mutation in a Mexican patient with Baraitser-Winter syn- drome.... |
2016 |
| Details |
Fine-scale genetic diversity of Japanese population.... |
2016 |
| Details |
Rescue of locomotion defect in Drosophila model of spastin hereditary spas... |
2016 |
| Details |
Genetic variants do not predict effi cacy response with mepolizumab in s... |
2016 |
| Details |
Genetic architect: Discovering genomic structure using learned neural arch... |
2016 |
| Details |
Investigating DNA methylation as a marker for historical smoke exposure an... |
2016 |
| Details |
Conclusions:... |
2016 |
| Details |
syndrome to explore rare disease variation in the context of genetic back... |
2016 |
| Details |
A computational framework for genotyping and early detection of lung cance... |
2016 |
| Details |
Summary Results: ... |
2016 |
| Details |
Computing confi dence intervals on positive predictive value for non-in- v... |
2016 |
| Details |
Heritability and ancestry infl uence the genomic architecture of height in... |
2016 |
| Details |
Haplotype phasing of key cardiac disease genes at genome and tran- scriptom... |
2016 |
| Details |
Newborn deafness genetic screening of 142,417 neonates in Wuhan, China.... |
2016 |
| Details |
Personal ancestry inference at the fi nest scale reveals more sub-struc- t... |
2016 |
| Details |
Identifi cation of amyotrophic lateral sclerosis loci using distantly rela... |
2016 |
| Details |
SNPs, linkage disequilibrium and transcriptional factor binding sites as- s... |
2016 |
| Details |
SurvivalGWAS_SV: Software for the analysis of genome-wide associ- ation stu... |
2016 |
| Details |
MicroRNAs and their regulatory interactions in the human hair follicle.... |
2016 |
| Details |
Nager syndrome presenting with osteoporosis in a 10 year-old male with a n... |
2016 |
| Details |
-Over- growth Syndrome.... |
2016 |
| Details |
Resolution of complex genomic structures arising from integrated du- plicat... |
2016 |
| Details |
Patients and their families and friends as developers of medical treat- men... |
2016 |
| Details |
A review of a 20-year experience with prenatal diagnosis records, 9,297 ca... |
2016 |
| Details |
Eff ect of bias and misclassifi cation on gene-environment studies con- d... |
2016 |
| Details |
Transcriptome signatures and structural variations in clinical subtypes of... |
2016 |
| Details |
PCR SNP assay for analysis of 22q11 region in Tunisian population.... |
2016 |
| Details |
A temporal perspective on the interplay of demography and selection on del... |
2016 |
| Details |
mutations link Parkinsons disease and other movement dis- orders to recess... |
2016 |
| Details |
Whole genome sequence analysis of a multi-ethnic population of chil- dren w... |
2016 |
| Details |
CRAVAT 4.2: Informatics tools for high-throughput analysis of exome varian... |
2016 |
| Details |
Circulating microRNAs and prediction of asthma exacerbation in the Childho... |
2016 |
| Details |
-associated Ehlers-Danlos syndrome and spondyloepimetaphyseal dysplasia ... |
2016 |
| Details |
can cause non-lethal TRAP syndrome: Fur- ther delineation of an expanding ... |
2016 |
| Details |
Low memory, fast, specifi c, sensitive, multi-reference sequence clas- sif... |
2016 |
| Details |
The Genomic Consultation: A clinical service designed to enrich patient se... |
2016 |
| Details |
Impact of genetic disease, mode of transmission and mutation type on the o... |
2016 |
| Details |
Genetic variation and smoking behavior among diverse populations: Multi-Et... |
2016 |
| Details |
The gut microbiome associates with lifetime cardiovascular disease risk pr... |
2016 |
| Details |
Identifi cation of a novel splice mutation in choroideremia patients invo... |
2016 |
| Details |
Testing directional selection on polygenic traits using ancient DNA.... |
2016 |
| Details |
and alpha-synuclein immunostaining in the gastric and colonic mucosa in P... |
2016 |
| Details |
Elucidating the complex relationship between pleiotropy and disease risk i... |
2016 |
| Details |
through crowdsourced curation: Integrat- ing all types of medical and scie... |
2016 |
| Details |
Sex-specifi c eff ects of testosterone on the sexually dimorphic tran- sc... |
2016 |
| Details |
mutation in a young girl with osteopetros- is.... |
2016 |
| Details |
Optimized exome sequencing to characterize complex syndromic retinal dystr... |
2016 |
| Details |
Clinically actionable genetic variants in cancer-predisposing genes: A sur... |
2016 |
| Details |
Enhancement of undergraduate education using a collaborative model to enga... |
2016 |
| Details |
Introduction:... |
2016 |
| Details |
variant rs3077 may account for global disparity of hepatitis B virus infe... |
2016 |
| Details |
Molecular characterization of pediatric restrictive cardiomyopathy from in... |
2016 |
| Details |
terminal 4.5 Mb duplication of chromosome 16q24.1-q24.3 associated with a... |
2016 |
| Details |
Exploring detailed demographic histories using stairway plot 2.... |
2016 |
| Details |
Objectives:... |
2016 |
| Details |
Real-life prosocial attitudes in North America: A genome-wide associa- tion... |
2016 |
| Details |
Automated genotypic imputation of PAGE II data using scientifi c work- fl ... |
2016 |
| Details |
in scleral fi broblasts.... |
2016 |
| Details |
Whole-exome sequencing identifi ed novel compound heterozygous mutations ... |
2016 |
| Details |
Summary of results... |
2016 |
| Details |
Improved detection of genetic variants through a non-aligning k-mer approa... |
2016 |
| Details |
Workshop in applied genomic medicine: The outcome.... |
2016 |
| Details |
A modifi ed genotyping method to reliably identify single fetal cells in t... |
2016 |
| Details |
A variance-components approach to identifying causal haplotypes in quantit... |
2016 |
| Details |
Analysis of the human kidney transcriptome reveals transcriptional regulat... |
2016 |
| Details |
gene causing mucopolysaccharidosis type VI.... |
2016 |
| Details |
Detecting mutagenic recombination using genome-wide divergence data.... |
2016 |
| Details |
Conclusion:... |
2016 |
| Details |
Discovery and replication of rare variant associations using a knowl- edge-... |
2016 |
| Details |
Homogenization of dbGaP data.... |
2016 |
| Details |
Conclusion: ... |
2016 |
| Details |
New mutations and genotype/phenotype correlation in patients from consangu... |
2016 |
| Details |
Semidominant inheritance in Frank-ter Haar syndrome.... |
2016 |
| Details |
Effi cient human genome sequence assembly with ABySS v2.... |
2016 |
| Details |
Discordance in selected designee for return and the legal recipient of gen... |
2016 |
| Details |
Targeted gene set enrichment of placental transcriptome in preeclamp- sia.... |
2016 |
| Details |
Exposure to polychlorinated biphenyls (PCBs) and uric acid transporter pol... |
2016 |
| Details |
Plasma levels of miR-19a, miR-26a and miR-584 are associated with severity... |
2016 |
| Details |
Distal trisomy 15q26.3-qter: Report of three familial cases and review of ... |
2016 |
| Details |
Genome-wide ancient DNA from Europes fi rst encounter of farmers and hunt... |
2016 |
| Details |
as a risk gene for ALS in a central European cohort.... |
2016 |
| Details |
Polygenic load for neuroticism predicts chronic pain in the UK Biobank coh... |
2016 |
| Details |
Bayesian latent variable models for single-cell trajectory learning.... |
2016 |
| Details |
A role for YY1 in sex-biased transcription revealed through X-linked promo... |
2016 |
| Details |
proto-oncogene in a child with piebaldism.... |
2016 |
| Details |
Introduction:... |
2016 |
| Details |
Inferring expressed genes by whole-genome sequencing of plasma DNA.... |
2016 |
| Details |
Supporting genetics in primary care: Investigating how theory can inform p... |
2016 |
| Details |
Genome-wide analyses for age at menopause identify gene-environment intera... |
2016 |
| Details |
The impact of population structure on rare variant association tests.... |
2016 |
| Details |
Assessing chromatin marks to unveil the pleiotropic mechanisms of 122 loci... |
2016 |
| Details |
Clinical cases:... |
2016 |
| Details |
Singapore Integrative Omics Cohort: Establishing multiple omics baselines ... |
2016 |
| Details |
Assessing the contribution of common polygenic risk and rare variation in ... |
2016 |
| Details |
Heritability enrichment of specifi cally expressed genes identifi es dis... |
2016 |
| Details |
genome assemblies by scaff olding next-generation sequencing data with B... |
2016 |
| Details |
The landscape of regulatory post-transcriptionally derived small non- codin... |
2016 |
| Details |
Congenital contractural arachnodactyly: Delineation of clinical diag- nosti... |
2016 |
| Details |
Case description:... |
2016 |
| Details |
Prediction of prostate cancer recurrence by voting feature intervals.... |
2016 |
| Details |
: Study of the impacts of neurofi bromatosis type 1 on the lives of aff... |
2016 |
| Details |
677C>T genotypes in pregnancy pathologies.... |
2016 |
| Details |
Association analyses of myopia in multiplex African-American families usin... |
2016 |
| Details |
Materi- als and Methods... |
2016 |
| Details |
Langer-Giedon syndrome with 8q23.1-q24.13 large deletion caused by 3-way t... |
2016 |
| Details |
Population structure and admixture of Xinjiangs Uyghurs.... |
2016 |
| Details |
Linkage analysis on the 20 consanguineous singleton families with mul- tipl... |
2016 |
| Details |
Complex traits analysis with big data: A landscape of the eff ects of sam... |
2016 |
| Details |
Utilizing allele specifi c expression to identify cis-regulatory variants.... |
2016 |
| Details |
Inter-individual variation in microRNA regulatory network.... |
2016 |
| Details |
mutations in metabolic cutis laxa syndromes: New clinical and pathogeneti... |
2016 |
| Details |
Discussion:... |
2016 |
| Details |
Inferring clonal sequences and phylogenies from personal tumor genome prof... |
2016 |
| Details |
Neurofi bromatosis Type 1 (NF1)... |
2016 |
| Details |
Background: ... |
2016 |
| Details |
To ERV is Human: A phenotype-wide scan linking previously unrecog- nized he... |
2016 |
| Details |
Interpretable deep learning approaches to understand the genetic and regul... |
2016 |
| Details |
13q22.2q34 tetrasomy mosaicism due to an inverted duplication with a neoce... |
2016 |
| Details |
Mutation rate estimation from population data.... |
2016 |
| Details |
Background & Purpose:... |
2016 |
| Details |
Joint fi ne mapping of GWAS and eQTL detects target gene and relevant tis... |
2016 |
| Details |
SeqArray - A storage-effi cient high-performance data format for WGS var... |
2016 |
| Details |
Identifi cation of lncRNAs involved in smooth muscle contraction path- way... |
2016 |
| Details |
Protein replacement therapy for autosomal recessive congenital ichthy- osis... |
2016 |
| Details |
SDCCAG8 aff ects AIMP2 localization and alters its downstream target, p53... |
2016 |
| Details |
Identifi cation of regulatory non-coding cancer drivers based on function-... |
2016 |
| Details |
Conclusion :... |
2016 |
| Details |
Objectives: ... |
2016 |
| Details |
Local genetic correlation provides insights into shared genetic basis of 3... |
2016 |
| Details |
RNA sequencing analyses reveal eight miRNA/mRNA pairs that may me- diate th... |
2016 |
| Details |
deletion causes Treacher-Collins syndrome 2 in a family with incomplete p... |
2016 |
| Details |
Robust and scalable inference of population history from hundreds of unpha... |
2016 |
| Details |
Conclusion:... |
2016 |
| Details |
Ygen: The fi rst systematic assessment of the infl uence of human Y chro... |
2016 |
| Details |
IGLCBP - A cloud based clinical bioinformatics pipeline.... |
2016 |
| Details |
Genetic factors and non-genetic mechanisms both contribute to iPSC methyla... |
2016 |
| Details |
gene in an infant with Marfan syndrome.... |
2016 |
| Details |
Genetic risk factors identifi ed for severe renal disease in Bardet-Biedl ... |
2016 |
| Details |
Variant EXplOreR : Integrative environment for functional understanding of... |
2016 |
| Details |
Adolescent decision-making regarding secondary fi ndings in whole ge- nome... |
2016 |
| Details |
Conclusion:... |
2016 |
| Details |
Inheritance modes specifi c pathogenicity prioritization (ISPP) for human ... |
2016 |
| Details |
Epigenome-wide association study for myocardial infarction identifi ed a ... |
2016 |
| Details |
Copy number variation analysis identifi es novel genomic regions asso- cia... |
2016 |
| Details |
Inference of evolutionary relationships among human populations based on t... |
2016 |
| Details |
Targeted high-throughput screening of olivocerebellar motor circuitry gene... |
2016 |
| Details |
Providing a comprehensive GWAS-based genetic risks to healthy individuals ... |
2016 |
| Details |
A scalable and secure genome archiving and communication system for the cl... |
2016 |
| Details |
HipSci data resources: High quality genomic and cell biological data for a... |
2016 |
| Details |
Case report:... |
2016 |
| Details |
Introduction... |
2016 |
| Details |
assembly pipeline to detect structural variants from RNA-seq data in clin... |
2016 |
| Details |
Review of return of results policy, as refl ected in clinical trial inform... |
2016 |
| Details |
H305L) and preterm birth in a Wisconsin cohort.... |
2016 |
| Details |
Generalized polygenic risk prediction for non-medical traits in a di- rect-... |
2016 |
| Details |
- A potential candidate gene for plaque development?... |
2016 |
| Details |
Partial trisomy 5q and partial monosomy 13q result in developmental delay ... |
2016 |
| Details |
better than recombination rate alone.... |
2016 |
| Details |
The genetics of levodopa-induced dyskinesia in Parkinsons disease.... |
2016 |
| Details |
Replication of genetic associations with height as a proof of concept for ... |
2016 |
| Details |
High-throughput clinical reporting of gene panels with the Neptune Pipe- li... |
2016 |
| Details |
Environmentally-induced epigenetic variability is associated with met- abol... |
2016 |
| Details |
Discussion:... |
2016 |
| Details |
N of 2: Assessing recurrent gene identifi cations with population and fun... |
2016 |
| Details |
Pan-cancer analysis using public research datasets can yield new clinical ... |
2016 |
| Details |
Consent for newborn screening: Parents and healthcare professionals experi... |
2016 |
| Details |
A comprehensive strategy for exome-based preconception carrier screening.... |
2016 |
| Details |
infection and clonal complexes in related samples from Starr County, Texa... |
2016 |
| Details |
Conclusion... |
2016 |
| Details |
Research reanalysis of clinical whole exome sequencing: Opportunities and ... |
2016 |
| Details |
Chromosome painting for arbitrary sample collections.... |
2016 |
| Details |
Genome wide association study of cisplatin-induced peripheral neurop- athy ... |
2016 |
| Details |
Steady-state gene expression explains 5-15% of heritability for many compl... |
2016 |
| Details |
A standard allele registry for the human genome.... |
2016 |
| Details |
Systematic identifi cation and characterization of regulatory elements de... |
2016 |
| Details |
Conclusion... |
2016 |
| Details |
Lipoid proteinosis: A clinical and molecular study in Egyptian patients.... |
2016 |
| Details |
Analysis of genetic variation data and its relationship to protein se- quen... |
2016 |
| Details |
Chartering precision medicine: Addressing health disparities through eff ... |
2016 |
| Details |
Embryo to embryo hybridisation improves the quality and reduces the cost o... |
2016 |
| Details |
GWAS of circulating soluble receptor for advanced glycation end prod- ucts:... |
2016 |
| Details |
Eff ect of lipoprotein (a)-associated genetic variants on plasminogen lev... |
2016 |
| Details |
Identifi cation of deletions during diagnostic massive parallel NGS gene ... |
2016 |
| Details |
Assembling an ancestry reference panel of diverse Asian populations throug... |
2016 |
| Details |
Generation of disease-specifi c autopsy-confi rmed iPSCs lines from post-... |
2016 |
| Details |
Pleiotropy in complex diseases estimated from family health history collec... |
2016 |
| Details |
Using data-driven approaches to address clinical heterogeneity in complex ... |
2016 |
| Details |
Joint allelic imbalance analysis of RNA and ATAC sequencing to explore the... |
2016 |
| Details |
Increased expression of mutant elastin alleles in autosomal dominant cutis... |
2016 |
| Details |
Conclusions:... |
2016 |
| Details |
: Discovery of combinatorial chromatin state diff erence in mul- tiple c... |
2016 |
| Details |
Return of secondary fi ndings and clinical sequencing Formulating a poli... |
2016 |
| Details |
Genome-wide maternal uniparental disomy mosaicism identifi ed in a produc... |
2016 |
| Details |
Shared genetic predictors of resting heart rate and all-cause mortality.... |
2016 |
| Details |
interacts with the aryl-hydrocarbon receptor to modify coronary smooth mu... |
2016 |
| Details |
Molecular karyotyping in patients with SRS features: A powerful tool to in... |
2016 |
| Details |
Large-scale whole genome sequencing of the Estonian population reveals nov... |
2016 |
| Details |
Impaired mitochondrial function and dynamics in the pathogenesis of FXTAS.... |
2016 |
| Details |
Rare copy number variants in over 100,000 subjects reveal novel disease an... |
2016 |
| Details |
Developing an integrative method to improve GWAS inference using en- hancer... |
2016 |
| Details |
Enabling high throughput next generation sequencing from low input ChIP an... |
2016 |
| Details |
gene in a PLACK family.... |
2016 |
| Details |
Dual genetic diagnosis as a valuable feature of whole exome sequenc- ing.... |
2016 |
| Details |
GFusion: A novel algorithm to identify fusion genes from cancer RNA- seq da... |
2016 |
| Details |
Cultural infl uences on genetic testing in Japanese university students.... |
2016 |
| Details |
Preimplantation genetic diagnosis leads to successful ongoing pregnan- cies... |
2016 |
| Details |
Winner's curse in quantitative genomics studies.... |
2016 |
| Details |
Integration of allele-specifi c chromatin signatures with GWAS fi ndings ... |
2016 |
| Details |
Miller-Dieker syndrome due to a 5.5 Mb 17p deletion from a Y-17 dicentric ... |
2016 |
| Details |
Inference of local pedigrees using Markov Chain Monte Carlo.... |
2016 |
| Details |
Repetitive and restrictive behaviors associate with the prohibitin gene in ... |
2016 |
| Details |
Enrichment of regulatory variants in the PheWAS Catalog: An implication of... |
2016 |
| Details |
Predicting gene regulation in diverse global populations.... |
2016 |
| Details |
Epigenomic signatures of high-altitude adaptation.... |
2016 |
| Details |
Clinical and molecular description in a patient with Keratitis-ichthy- osis... |
2016 |
| Details |
The identifi cation of novel causative variants and likely non-pathogenic ... |
2016 |
| Details |
Landscape of somatic mutations in the normal-appearing airway cancer- izati... |
2016 |
| Details |
The sharing of genomics and health-related data from children: A case of b... |
2016 |
| Details |
Enhancing X-linked disease risk assessment with a non-invasive prena- tal m... |
2016 |
| Details |
On testing of gene-gene interaction based on case-control data using genot... |
2016 |
| Details |
Cocaine may induce hypertension and aortic stiff ness via the miR-30c- 5p-... |
2016 |
| Details |
Mosaicism identifi ed by SNP array analysis in a large cohort of pediatric... |
2016 |
| Details |
Local ancestry patterns inferred from one million genomes recapitulate fi ... |
2016 |
| Details |
BLM DNA helicase protects against (CAG)(CTG) repeat instability.... |
2016 |
| Details |
) have stronger eff ect in predicting anti-tuberculosis drug induced li... |
2016 |
| Details |
A framework for the construction of information maps.... |
2016 |
| Details |
Systematic detection of spatiotemporal patterns of epigenetic changes.... |
2016 |
| Details |
Periodontal Ehlers-Danlos syndrome is caused by gain-of-function mutations... |
2016 |
| Details |
in two patients with syndromic cranio- facial anomalies.... |
2016 |
| Details |
Identifying statistically signifi cant SNP combinations from GWAS dataset ... |
2016 |
| Details |
Motivations and concerns of biobank participants in allowing family access... |
2016 |
| Details |
They cant fi nd anything wrong with him, yet: Mothers experiences of pare... |
2016 |
| Details |
The susceptibility of genome-wide association studies to recent fi ne- sca... |
2016 |
| Details |
Conclusions: ... |
2016 |
| Details |
The presence of two rare genomic syndromes, 1q21.1 deletion and Xq28 dupli... |
2016 |
| Details |
Fine-scale population structure in southern Africa refl ects ecoegeo- grap... |
2016 |
| Details |
missense mutations guide discovery of new neurodevelopmental disease risk... |
2016 |
| Details |
Integration of functional annotation with GWAS to build disease-specifi c ... |
2016 |
| Details |
SeqSQC: An R package for sample quality check with NGS data.... |
2016 |
| Details |
Smoking associated methylation quantitative trait loci preferentially map ... |
2016 |
| Details |
Types of albinism in southern Africa and genetic investigation of pigment-... |
2016 |
| Details |
Syndrome femur-fi bula-ulna (FFU) report on additional fi ndings as atyp-... |
2016 |
| Details |
Germline mutations in cancer-predisposing genes: Clinically actionable gen... |
2016 |
| Details |
Personalized genomics clinics: A model for delivery of genetics care.... |
2016 |
| Details |
An excess of chromosome 4 breakpoint in recurrent pregnancy loss.... |
2016 |
| Details |
Genetic variants associated with C-Reactive protein levels in US minori- ti... |
2016 |
| Details |
Genetic variation infl uences the gene expression response to hypoxia and... |
2016 |
| Details |
interstitial duplication 5q31.2q31.3 associated with microceph- aly, growt... |
2016 |
| Details |
Emerging pattern of possible genetic and lifestyle risk factors associated ... |
2016 |
| Details |
is a risk factor for autism spectrum disorder and other neurodevelopmenta... |
2016 |
| Details |
GWAS identifi es two novel loci associated with daily consumption of spic... |
2016 |
| Details |
SCONE: Correcting and evaluating the infl uence of unwanted variation on ... |
2016 |
| Details |
DNA methylation concordance in pediatric blood and buccal tissues.... |
2016 |
| Details |
in a patient with aortic dilatation and aneurysms.... |
2016 |
| Details |
Chromatin remodelling disorders: The evolving phenotype of EP300 gene synd... |
2016 |
| Details |
Identifi cation of germline copy number variations in hereditary prostate ... |
2016 |
| Details |
Protection of genomic information by amended Japanese Personal In- formatio... |
2016 |
| Details |
Deciphering the impact of IL-10 gene polymorphism (-1082A/G, -592A/C and -... |
2016 |
| Details |
A robust powerful statistical method to integrate genotype and gene expres... |
2016 |
| Details |
A study of the eff ect of dietary behaviour on DNA methylation in children... |
2016 |
| Details |
Molecular dissection of germline chromothripsis in a developmental context... |
2016 |
| Details |
Identifying type 1 diabetes risk variants in a low prevalence population.... |
2016 |
| Details |
Increased burden of deleterious variants in essential genes in autism spec... |
2016 |
| Details |
Prevalence of allelic heterogeneity in complex traits.... |
2016 |
| Details |
Identifying multi-tissue gene expression outliers to elucidate the functio... |
2016 |
| Details |
Eff ects of socioeconomic status on early life DNA methylation.... |
2016 |
| Details |
mutation in a congenital non-progressive linear nev- oid hyperpigmentation... |
2016 |
| Details |
gene found in two families with atypical arthrogryposis, renal dysfuntion... |
2016 |
| Details |
Inferring escape and reversion rates of cancer neo-antigens in response to... |
2016 |
| Details |
A growing market for clinical exome sequencing.... |
2016 |
| Details |
Profi ling sncRNA expression through gestation by RNA sequencing.... |
2016 |
| Details |
Designing of an effi cient genotyping chip for discovery and pan-disease ... |
2016 |
| Details |
mutations in brain arteriovenous malforma- tion.... |
2016 |
| Details |
Improving coverage of poorly sequenced regions in clinical exomes.... |
2016 |
| Details |
Childhood predictors of adult fatty liver - The Cardiovascular Risk in You... |
2016 |
| Details |
Noncoding autism spectrum disorder risk variants identifi ed by whole gen... |
2016 |
| Details |
Identifi cation of individuals by trait prediction from the genome.... |
2016 |
| Details |
Cross-Validated BLUPs: A novel and powerful summary statistic opens new do... |
2016 |
| Details |
Identifying diff erentially methylated regions (methylome changes) in res... |
2016 |
| Details |
Males with Incontinentia Pigmenti: Somatic and germ line mosaicism for the... |
2016 |
| Details |
) cause erythroker- atodermia-cardiomyopathy (EKC) syndrome, a novel card... |
2016 |
| Details |
Visualization and analysis of cancer genomics data with omics tools.... |
2016 |
| Details |
Attitudes towards centralized biorepositories among patients in Cleveland,... |
2016 |
| Details |
Cell based non-invasive prenatal testing using NGS-based copy number asses... |
2016 |
| Details |
Gene- and pathway-based association tests for multiple traits with GWAS su... |
2016 |
| Details |
Transcriptome analysis of human explanted hearts identifi es cardio- myopa... |
2016 |
| Details |
Lions and tigers and bears, oh my! Technically challenging variants are pr... |
2016 |
| Details |
HLA-DPB1 and type 1 diabetes in Han Chinese.... |
2016 |
| Details |
CDH4 and TSNAX-DISC1 moderate a novel quantitative autism phe- notype.... |
2016 |
| Details |
Functional properties of genomic region associated with multiple traits in... |
2016 |
| Details |
PheWeb: A tool for interacting with and visualizing PheWAS results.... |
2016 |
| Details |
DNA methylation at birth is associated with prenatal exposure to alcohol, ... |
2016 |
| Details |
nonsense homozygous mutation (c.7159G>T; p.Glu2387*) causes epidermolysis... |
2016 |
| Details |
Debunking Occams razor: Diagnosing multiple genetic diseases by whole exom... |
2016 |
| Details |
assembly of candidate genes on the cloud.... |
2016 |
| Details |
Do primary care physicians manage genome sequencing results ap- propriately... |
2016 |
| Details |
Conclusion:... |
2016 |
| Details |
Principal component based adaptive-weight burden test for quantitative tra... |
2016 |
| Details |
defi ciency impairs embryonic vasculogenesis and epitheli- al-to-mesenchy... |
2016 |
| Details |
in horizontal gaze palsy with progressive scoliosis.... |
2016 |
| Details |
complex with type 2 diabetes in multiple populations.... |
2016 |
| Details |
Deciphering the non-coding regulatory landscape in autism spectrum disorde... |
2016 |
| Details |
LD-dependent architecture of human complex traits reveals action of negati... |
2016 |
| Details |
Facilitating collaborative analysis in large-scale rare disease genomics.... |
2016 |
| Details |
Genetic and transcriptional analysis of human host response to healthy gut... |
2016 |
| Details |
activating mutations in hypomelanosis of Ito with brain overgrowth.... |
2016 |
| Details |
mutations cause a new syndrome with intellectual dis- ability, white matte... |
2016 |
| Details |
Predicting genome-wide DNA methylation of repetitive elements.... |
2016 |
| Details |
Genetic counselors experiences with clinical whole genome sequencing in a ... |
2016 |
| Details |
Comparing the clinical yield of carrier screening: Genotyping versus exon ... |
2016 |
| Details |
Mapping variants to amino-acid changes in three-dimensional protein space ... |
2016 |
| Details |
in patients with non-syndromic congenital heart defect from India.... |
2016 |
| Details |
INTRODUCTION... |
2016 |
| Details |
associ- ated with body mass index in Samoans.... |
2016 |
| Details |
Aff ected sib-pair analysis to identify risk variants for autism endophe- ... |
2016 |
| Details |
Neurodevelopmental indications of increased vulnerability for executive dy... |
2016 |
| Details |
Visualization and analysis of single-cell RNA-seq data by kernel-based sim... |
2016 |
| Details |
Genomic context drives the conservation of enhancer activity across specie... |
2016 |
| Details |
Pain related polymorphisms in COMT and SCN9A are signifi cantly higher in... |
2016 |
| Details |
polyadenylation site in two families with X-linked anophthalmia.... |
2016 |
| Details |
mTCTdb: An integrative resource for mutation-dependent targeted cancer the... |
2016 |
| Details |
The NIGMS Human Genetic Cell Repository: An invaluable resource and a rese... |
2016 |
| Details |
Two cases of genetic counseling on additional chromosomes detected by kary... |
2016 |
| Details |
Accounting for population stratifi cation in joint analyses of host and p... |
2016 |
| Details |
mutations impair histone methylation and underlie nonsyn- dromic patent du... |
2016 |
| Details |
CASE REPORT... |
2016 |
| Details |
Exome sequencing of >20,000 Finnish individuals identifi es rare variants ... |
2016 |
| Details |
Identifi cation of candidate genes for IQ discrepancy in extended families... |
2016 |
| Details |
Targeted pharmacogenetic sequencing among 9,000 eMERGE partic- ipants with ... |
2016 |
| Details |
Generic, protein-, and mechanism-specifi c computational tools for vari- a... |
2016 |
| Details |
Outlier gene expression networks identify functional rare variants.... |
2016 |
| Details |
gene mutation and further delineation of the associated phenotype.... |
2016 |
| Details |
gene in a patient with undiagnosed disease.... |
2016 |
| Details |
Integrating genome and transcriptome data to predict functional driver mut... |
2016 |
| Details |
Recommendations of researchers and physicians about inherited chromosomall... |
2016 |
| Details |
What Quebec pregnant women think about prenatal testing and their responsi... |
2016 |
| Details |
Meta-GWAS in cystic fi brosis indicates common variation in regulatory re... |
2016 |
| Details |
mutation causes coronary artery disease by activating noncanon- ical Wnt s... |
2016 |
| Details |
DISCUSSION... |
2016 |
| Details |
An exome-wide association study for type 2 diabetes-attributed end- stage k... |
2016 |
| Details |
Integrating expression quantitative brain loci in autism spectrum disorder... |
2016 |
| Details |
Shared genetic basis of complex and rare disease.... |
2016 |
| Details |
Pedigree reconstruction in the era of many thousands of samples.... |
2016 |
| Details |
The analysis of conserved non-coding elements and topologically associatin... |
2016 |
| Details |
Insights in the clinical features and molecular pathogenesis of Spinoc- ere... |
2016 |
| Details |
Whole exome sequencing identifi es genes converge on PI3K/mTOR and Ras/MA... |
2016 |
| Details |
An FFPE-based prognostic signature to predict metastasis in stage I/ II mic... |
2016 |
| Details |
Genomic newborn screening: Public health policy considerations and recomme... |
2016 |
| Details |
Next generation screening: TruSight One clinical exome for preconcep- tion ... |
2016 |
| Details |
Assessing phenome-wide consequences of gene regulation using 40 hu- man tis... |
2016 |
| Details |
increases blood pressure by modulating sodium resorption and plasma volum... |
2016 |
| Details |
Rapid clinical WES in critically ill infants.... |
2016 |
| Details |
is associated with 0.53% lower HbA1c in Malays.... |
2016 |
| Details |
Dysregulation of translation processes: A persistent signal in the diagnos... |
2016 |
| Details |
Clinical signifi cance of genetic variation among genes involved in drug ... |
2016 |
| Details |
Scaling rare disease genomics to tens of thousands of samples.... |
2016 |
| Details |
Pinpointing noncoding sequence variation aff ecting transcription factor ... |
2016 |
| Details |
Growth characteristics in osteogenesis imperfecta Results from an observa... |
2016 |
| Details |
Utilizing nonsense-mediated decay facilitates candidate disease gene chara... |
2016 |
| Details |
Tracing the origin of disseminated tumor cells in breast cancer using sing... |
2016 |
| Details |
Benefi ts, risks, and perceived utility of newborn genomic sequencing: Co... |
2016 |
| Details |
The establishment of a new leafl et for prenatal diagnosis as an approach ... |
2016 |
| Details |
Statistical methods for rare variant test for multiple phenotypes.... |
2016 |
| Details |
locus on 5q14.3.... |
2016 |
| Details |
contiguous gene deletions arise from repli- cation-based mechanisms and r... |
2016 |
| Details |
Metabolomics of insulin resistance and impaired insulin secretion: A multi... |
2016 |
| Details |
Metabolomic analysis leading to biomarkers and a potential blood-based tes... |
2016 |
| Details |
Establishment of a pharmacogenomics testing platform using next-gen- eratio... |
2016 |
| Details |
A population-level structural variant catalogue to improve the recall and ... |
2016 |
| Details |
Functional annotation of the genome using a high-throughput enhancer assay... |
2016 |
| Details |
missense mutation in sporadic cerebellar ataxias in Italy.... |
2016 |
| Details |
mutation responsible for the comorbidity of congenital cataract and azoos... |
2016 |
| Details |
Translating cancer genomics research bioinformatics to precision oncol- ogy... |
2016 |
| Details |
Sharing genetic information with family: Responses before and after receiv... |
2016 |
| Details |
Single-cell RNA-seq analysis of human pancreatic islets reveals novel gene... |
2016 |
| Details |
Effi cient calculation of genetic correlations across 700,000 pairs of d... |
2016 |
| Details |
Aneuploidy detection using multiplex ligation-dependent probe ampli- fi ca... |
2016 |
| Details |
Analysis of chromosome 22q11.2 copy number variations by multiplex ligatio... |
2016 |
| Details |
Relative contribution of type 1 and type 2 genetic risk loci to latent aut... |
2016 |
| Details |
Exome sequencing of pure sporadic cases of autism identifi es rare potent... |
2016 |
| Details |
The Million Veteran Program: A mega-biobank for precision medicine.... |
2016 |
| Details |
Population-scale SV detection and characterization using SVTools.... |
2016 |
| Details |
Dissecting the functional architecture of local and distal gene expression ... |
2016 |
| Details |
Clinical characteristics and detailed haplotype analysis of patients with ... |
2016 |
| Details |
Expanded phenotypic spectrum of autosomal recessive EGFR-relat- ed disease ... |
2016 |
| Details |
Comprehensive molecular profi ling and subtyping of lung adenocarci- noma ... |
2016 |
| Details |
Preemptive clinical pharmacogenetic testing in children: Patient and paren... |
2016 |
| Details |
missense variants.... |
2016 |
| Details |
Effi cient phenome-wide analyses of large-scale sequencing data.... |
2016 |
| Details |
Cytogenetic analysis of chromosomal abnormalities in patients with Myelody... |
2016 |
| Details |
Combined genetic analyses with targeted next-generation sequencing, multip... |
2016 |
| Details |
Aggregate eff ects of type 2 diabetes genetic loci on diabetic retinopa- t... |
2016 |
| Details |
Whole-genome sequencing provides additional insight into the genetic archi... |
2016 |
| Details |
Association rule learning on electronic health records to identify groups ... |
2016 |
| Details |
High resolution measurement of DUF1220 domain copy number from whole genom... |
2016 |
| Details |
Genetics of local gene expression across 44 human tissues.... |
2016 |
| Details |
Rapamycin and bafi lomycin A1 regulated autophagy against reactive oxygen... |
2016 |
| Details |
in a patient with a suspected connective tissue disor- der.... |
2016 |
| Details |
Interactome-based approach to identifi cation of cancer genes with low mu... |
2016 |
| Details |
Between open and controlled? A registered access model.... |
2016 |
| Details |
gene in Premature Pubarche (PP).... |
2016 |
| Details |
Frequency of arylsulfatase A pseudodefi ciency in healthy Mexican individ... |
2016 |
| Details |
Development and validation of a clinical bioinformatics pipeline for compr... |
2016 |
| Details |
Introduction... |
2016 |
| Details |
) gene polymorphisms in Kuwaiti Arab children with type-1 diabetes melli... |
2016 |
| Details |
Autism and obesity: Assessing the prevalence of antipsychotic-induced weig... |
2016 |
| Details |
A software platform facilitating community analyses of genetic datasets fo... |
2016 |
| Details |
SVScore: An impact prediction tool for structural variation.... |
2016 |
| Details |
Finer analysis of the correlation between SNP, CpG methylation and gene ex... |
2016 |
| Details |
can cause congenital cerebel- lar ataxia with global developmental delay.... |
2016 |
| Details |
mutations.... |
2016 |
| Details |
GtExCLDB A database of genotypes and gene expression for cancer cell line... |
2016 |
| Details |
Patient-centered deep phenotyping using the Human Phenotype Ontol- ogy.... |
2016 |
| Details |
Modulation of gut microbiota by GLP-1 receptor agonist in the high-fat die... |
2016 |
| Details |
Multiple HCV amino acid variants associate with interferon lambda poly- mor... |
2016 |
| Details |
Over expression of IQGAP1 in patients with mutations in the Armadillo regi... |
2016 |
| Details |
Conclusion... |
2016 |
| Details |
Eff ect of genetic polymorphism of OCT and MATE transporters on met- formi... |
2016 |
| Details |
Polygenic risk score and their clinical traits correlations in schizophre- ... |
2016 |
| Details |
variants causal to NiemannPick disease.... |
2016 |
| Details |
ClinVar: For researchers and medical practitioners alike.... |
2016 |
| Details |
A high-resolution landscape of transcriptional regulation unraveled by Tra... |
2016 |
| Details |
HARS-related Charcot-Marie-Tooth disease mimicking adult polyglu- cosan bod... |
2016 |
| Details |
Non-penetrance in cerebro-costo-mandibular syndrome.... |
2016 |
| Details |
Dont assume infi nite sites! Detection of intratumoral divergence of copy ... |
2016 |
| Details |
GenomeConnect: An update of engaging patients in data sharing eff orts th... |
2016 |
| Details |
in Chinese Han patients with metabolic syndrome.... |
2016 |
| Details |
Phenotype similarity regression for identifying the genetic determinants o... |
2016 |
| Details |
amplifi cation and ALL pre-B with 46,XY,t(4;11). Case report.... |
2016 |
| Details |
Comprehensive assay to detect DNA sequence variants in the muco- polysaccha... |
2016 |
| Details |
Clinical whole exome sequencing in early onset diabetes patients.... |
2016 |
| Details |
Uncovering obsessive-compulsive disorder risk genes in a paediatric co- hor... |
2016 |
| Details |
Training a type 2 diabetes specifi c functional sequence predictor.... |
2016 |
| Details |
CoNVaDING: Single exon variation detection in targeted NGS data.... |
2016 |
| Details |
Family studies identify transcripts with strong parent-of-origin eff ects ... |
2016 |
| Details |
are a novel cause of intellectual disabili- ty, psychiatric and neuromuscu... |
2016 |
| Details |
: A single point mutation causes developmental delay, midface hypoplasia... |
2016 |
| Details |
Identifying transcriptomic mechanisms of gemcitabine resistance and counte... |
2016 |
| Details |
Structured care for individuals at risk for familial cancer syndromes in a... |
2016 |
| Details |
Obesity in adults with 22q11.2 deletion syndrome.... |
2016 |
| Details |
Modeling the covariance of eff ect sizes in a meta-analysis.... |
2016 |
| Details |
Clinical report: ... |
2016 |
| Details |
p.Arg882His mutation in a patient with Tatton-Brown-Rahman Overgrowth Syn... |
2016 |
| Details |
Overall and central obesity with insulin sensitivity and secretion in a Han... |
2016 |
| Details |
Genetic risk for schizophrenia associates with living in cities.... |
2016 |
| Details |
PyDAIR: A tool for precise determination of the diversity of immuno- globul... |
2016 |
| Details |
Cell type-specifi c annotation and prioritization of regulatory variants.... |
2016 |
| Details |
Identifying factors which control variable escape from X chromosome inacti... |
2016 |
| Details |
Cranial irradiation in childhood mimicking neurofi bromatosis type II.... |
2016 |
| Details |
-mediated Noonan syndrome with cardiac hypertro- phy.... |
2016 |
| Details |
Impact of genetic and epigenetic alterations in prostate cancer on tissue-... |
2016 |
| Details |
Transitioning NIPT to general practice: ELSI challenges in the healthcare ... |
2016 |
| Details |
Genome-wide copy number variation analysis identifi es leukocyte-spe- cifi... |
2016 |
| Details |
Incorporate technical variation to assess reproducibility of genome-wide m... |
2016 |
| Details |
Implementing molecular barcode counting into a comprehensive inte- grated t... |
2016 |
| Details |
Supplemental CNV analysis in diagnostic NGS gene panel data.... |
2016 |
| Details |
Genome-wide association study identifi es new type 2 diabetes risk loci i... |
2016 |
| Details |
Replicative analysis of SNPs, associated with schizophrenia and its cognit... |
2016 |
| Details |
Comparison of HLA allelic imputation programs.... |
2016 |
| Details |
A robust statistical approach to refi ne frequency thresholds for clinical... |
2016 |
| Details |
Fine mapping gene expression associations in IPS-derived sensory neurons w... |
2016 |
| Details |
Huntington Disease: Case report, clinical and genetic molecular diag- nosis... |
2016 |
| Details |
are the cause of syndromic intellec- tual disability.... |
2016 |
| Details |
RNA sequencing-based cell proliferation analysis across 19 cancers identif... |
2016 |
| Details |
Engaging families in research by targeting their concerns.... |
2016 |
| Details |
Chromosome 22 presents a higher density of CNVs among Brazilian patients w... |
2016 |
| Details |
SMART: Statistical Metabolomics Analysis An R Tool.... |
2016 |
| Details |
in Algerian triple-negative breast cancer patients: Implications for gene... |
2016 |
| Details |
The NIH Undiagnosed Diseases Program: A mystery solved at long last.... |
2016 |
| Details |
Diff erential eff ects of genetic variants from across the allelic freque... |
2016 |
| Details |
Conclusions.... |
2016 |
| Details |
Rare hematopoietic clone detection using error-corrected sequencing.... |
2016 |
| Details |
Incorporating variant analysis in microRNA coding genes and microRNA targe... |
2016 |
| Details |
Identifying the functional domains of XIST and their role in X-chromo- some... |
2016 |
| Details |
cause a genetic syndrome with features that overlap those associated with... |
2016 |
| Details |
causes syndromic intellectual dis- ability.... |
2016 |
| Details |
An analysis of expression of druggable targets and prostate cancer disease... |
2016 |
| Details |
Long QT syndrome: A genetic test in the context of a diagnostic algorithm.... |
2016 |
| Details |
Accurate Rh blood-typing from next generation sequencing data.... |
2016 |
| Details |
Association of chromosome 15q25 (CHRNA5/A3/B4) with smoking behavior gener... |
2016 |
| Details |
Background... |
2016 |
| Details |
Conclusions:... |
2016 |
| Details |
Identifi cation of common drug targets for type 2 diabetes mellitus and c... |
2016 |
| Details |
Genes infl uence human sexual partnering behavior.... |
2016 |
| Details |
HLAminer: Prediction of HLA types from NGS data.... |
2016 |
| Details |
A novel 2D genome segmentation method for studying epigenetic variation in... |
2016 |
| Details |
in the 3D bipartite structure of the inactive X chromosome.... |
2016 |
| Details |
Ribosomal RNA-processing protein 7 homolog A (RRP7A) is associated with pr... |
2016 |
| Details |
missense mutations in a very atypical Baraitser-Winter syndrome case wit... |
2016 |
| Details |
INTRODUCTION... |
2016 |
| Details |
Familial consequences in 25% at-risk individuals after presymptomatic test... |
2016 |
| Details |
Deep targeted sequencing reveals potential causal alleles at SLE risk loci... |
2016 |
| Details |
Multi-marker methylation predictors of clinical biomarkers.... |
2016 |
| Details |
Materials and Methods... |
2016 |
| Details |
Multiple rare actionable mutations identifi ed by whole exome or genome s... |
2016 |
| Details |
Integration of multi-tissue transcriptomic and genetic data in type 2 diab... |
2016 |
| Details |
Molecular subtypes of schizophrenia show negative symptom elevation and ea... |
2016 |
| Details |
Computational estimation of leukocyte distribution in cord blood methyl- at... |
2016 |
| Details |
An automated method to identify familial relationships in electronic healt... |
2016 |
| Details |
Human elements regulating escape from X-chromosome inactivation are recogn... |
2016 |
| Details |
mice reveals pathways for Rett syndrome pathogenesis.... |
2016 |
| Details |
gene identifi ed in a patient with au- tosomal recessive microcephaly and... |
2016 |
| Details |
Bioinformatics design and analysis approach for targeted NGS tumor immune ... |
2016 |
| Details |
Human genetics at the National Research Centre in Egypt: History, achievem... |
2016 |
| Details |
Next generation sequencing for an asymptomatic case of Myelodys- plastic sy... |
2016 |
| Details |
Clustering RNA-seq expression data using grade of membership models.... |
2016 |
| Details |
Conclusions... |
2016 |
| Details |
Detection of copy number variants by whole exome sequencing.... |
2016 |
| Details |
A novel metabolic syndrome genetic risk score characterizes high-risk indi... |
2016 |
| Details |
methylation and stress response in a clinical population with ma- jor depr... |
2016 |
| Details |
Meta-analysis of biopsy expression profi les of kidney transplant patients... |
2016 |
| Details |
dbLoF: An online database of human loss-of-function variants.... |
2016 |
| Details |
Interaction of saposin C with GCase mutations leads to mutation-depen- dent... |
2016 |
| Details |
Absence of the autophagy adaptor SQSTM1/p62 causes childhood-onset neurode... |
2016 |
| Details |
variants from sporadic Beans syndrome.... |
2016 |
| Details |
Patterns of somatic genomic variation in premalignant lesions inform insig... |
2016 |
| Details |
Learned lessons one-year experience of massive-scale crowd-sourcing platfo... |
2016 |
| Details |
Role of a long non-coding RNA in prednisolone resistance, cell prolif- erat... |
2016 |
| Details |
A quasi-likelihood approach for transmission-based association map- ping us... |
2016 |
| Details |
Mutation detection in circulating tumor DNA in early stage cancer sam- ples... |
2016 |
| Details |
Detection of low level mosaic mutations in a gene panel for segmental over... |
2016 |
| Details |
Genetics of diabetes in U.S. Hispanic/Latino individuals: Results from the... |
2016 |
| Details |
Mouse brain transcriptome of innate and stress-induced anxiety-like behavi... |
2016 |
| Details |
The Longitudinal Pediatric Data Resource: Accelerating new knowledge disco... |
2016 |
| Details |
GeneHancer: A comprehensive database of annotated human enhancers, key to ... |
2016 |
| Details |
Attenuation of hedgehog signaling predisposes to nonalcoholic fatty liv- er... |
2016 |
| Details |
mutations cause a new GPI-anchor biosynthesis defect with developmental d... |
2016 |
| Details |
mutations in bilateral renal agenesis with severe limb defi ciencies.... |
2016 |
| Details |
Regulation of the immune response by long non-coding RNAs in healthy subje... |
2016 |
| Details |
Physician-patient communication of genome sequencing results in diag- nosti... |
2016 |
| Details |
Shared and specifi c features of the individual transcriptomic response i... |
2016 |
| Details |
Genetic variation and pulmonary tuberculosis susceptibility in Guin- ea-Bis... |
2016 |
| Details |
Identifi cation of prostate cancer driver mutations and transcriptomic pr... |
2016 |
| Details |
Secondary actionable fi ndings identifi ed by whole-exome sequencing: Fr... |
2016 |
| Details |
are modestly associated with type 2 diabetes in American Indians from the... |
2016 |
| Details |
Genome-wide association study of major depressive disorder in Europe- an Am... |
2016 |
| Details |
Whole genome sequencing study on bronchodilator drug response in ethnicall... |
2016 |
| Details |
Bioinformatics workfl ow for whole genome sequence linkage analysis of mu... |
2016 |
| Details |
increases risk for Crohn's disease and attenuates GM-CSF signaling.... |
2016 |
| Details |
mutations in epileptic encephalopathy genes in a cohort of patients with... |
2016 |
| Details |
Introduction :... |
2016 |
| Details |
Identify circulating DNAs tissue-of-origin in cancer by whole genome seque... |
2016 |
| Details |
GWS-KQ: A genome-wide sequencing knowledge questionnaire for family testin... |
2016 |
| Details |
assembly and RNA-seq shows season-dependent expression and editing in bla... |
2016 |
| Details |
Novel genomic predictor of bleeding risk in African Americans treat- ed wit... |
2016 |
| Details |
Prognostic value of syntenin in colorectal adenocarcinoma.... |
2016 |
| Details |
-re- lated overgrowth spectrum (PROS) in a tertiary hospital in Brazil.... |
2016 |
| Details |
variants and diabetes in the Hispan- ic Community Health Study/Study of La... |
2016 |
| Details |
Alcoholism, schizophrenia and Alzheimers disease susceptibility genes asso... |
2016 |
| Details |
Results and Conclusions ... |
2016 |
| Details |
NGS-SwiftCluster: A parallel computational framework for large scale genet... |
2016 |
| Details |
in Nonalcoholic Fatty Liver Dis- ease (NAFLD).... |
2016 |
| Details |
Non-optic gliomas in adults and children with neurofi bromatosis 1 (NF1).... |
2016 |
| Details |
Conclusion :... |
2016 |
| Details |
Machine learning to prioritize cancer variants for screening of cell free ... |
2016 |
| Details |
Satisfaction with receiving genome sequencing results in a precon- ception ... |
2016 |
| Details |
Identifi cation of copy number variations (CNVs) associated with congen- i... |
2016 |
| Details |
A phenome-wide gene burden analysis to identify DrugBank genes asso- ciated... |
2016 |
| Details |
Clonal hematopoiesis of indeterminate potential (CHIP) and pathobiology of... |
2016 |
| Details |
The CAUSES Research Clinic: A pediatric sequencing initiative in British C... |
2016 |
| Details |
Gene enrichment evaluation of glucocorticoid pathways for a role in type 2... |
2016 |
| Details |
The fi rst case of a child with a Joubert Syndrome with obsessive com- pul... |
2016 |
| Details |
Novel, allele sequence signature approach enables HLA-typing for bio- marke... |
2016 |
| Details |
Expanding and improving the 1000 Genomes Project data resources in the Int... |
2016 |
| Details |
BREATH: A web-accessible database of normal human and mouse lung developme... |
2016 |
| Details |
-like phenotype implicates the HCFC1/THAP11 complex in regulation of cob... |
2016 |
| Details |
in a large family characterized by developmental, infectious and infl am... |
2016 |
| Details |
Improving somatic mutation identifi cation in highly variable genomic re- ... |
2016 |
| Details |
Recruiting students to the fi eld of genetic counseling A local eff ort.... |
2016 |
| Details |
gene in Mexican patients with rheumatoid arthritis.... |
2016 |
| Details |
Utility and biases of multiple whole genome methods to estimate heri- tabil... |
2016 |
| Details |
Identifi cation of somatic mutations and copy number variations in multip... |
2016 |
| Details |
Partial uniparental disomy results in homozygous 2p21 deletion in a male n... |
2016 |
| Details |
Allelic variants associated with type 2 diabetes mellitus and related dis- ... |
2016 |
| Details |
Whole-exome sequencing in bipolar disorder identifi es rare variants asso... |
2016 |
| Details |
iReceptor: Bioinformatic platform for storing and sharing next gener- ation... |
2016 |
| Details |
Exome sequencing is the most cost-eff ective approach for rare vari- ant-b... |
2016 |
| Details |
Novel variants identifi ed in Chinese ankylosing spondylitis families by ... |
2016 |
| Details |
Searching for mutations in focal cortical dysplasia using next generation ... |
2016 |
| Details |
mutations associated with DORV, other congenital heart anom- alies, seizur... |
2016 |
| Details |
Mammalian species conservation data and the implication for clinical varia... |
2016 |
| Details |
Carrier screening program for Cree Encephalitis and Cree Leukoen- cephalopa... |
2016 |
| Details |
Background: ... |
2016 |
| Details |
Trajectory of new variants requiring pathogenicity assessment as poten- tia... |
2016 |
| Details |
mutation identifi ed in a family with male and female breast cancer pati... |
2016 |
| Details |
Next generation sequencing illuminates genetic heterogeneity in infantile ... |
2016 |
| Details |
Family-based linkage and association analysis of whole exome sequenc- ing d... |
2016 |
| Details |
Gene-environmental interactions between genetic variants in antiviral resp... |
2016 |
| Details |
Large-scale gene regulatory network inference to identify novel regula- tor... |
2016 |
| Details |
Opening the door to large scale use of clinical lab measures for asso- ciat... |
2016 |
| Details |
The role of FREM/FRAS proteins in the development of diaphragmatic sac her... |
2016 |
| Details |
, encoding the tubulin folding cofactor D.... |
2016 |
| Details |
BACKGROUND:... |
2016 |
| Details |
AmpliconArchitect: A computational approach to elucidate complex rearrange... |
2016 |
| Details |
Genetic counseling training and services in the Asia region.... |
2016 |
| Details |
Long interspersed nuclear element-1 (LINE1)-mediated 8q13 microdele- tion d... |
2016 |
| Details |
Using maximum allele frequencies across populations greatly increases powe... |
2016 |
| Details |
Introduction:... |
2016 |
| Details |
Detection of copy number variation using shallow whole genome se- quencing ... |
2016 |
| Details |
Exome sequencing in DiscovEHR identifi es rare variants in anion transpor... |
2016 |
| Details |
Background... |
2016 |
| Details |
A clinical catalogue of phenotypes associated with variation in the MHC lo... |
2016 |
| Details |
Bayesian multivariate analysis of large genetic studies identifi es novel ... |
2016 |
| Details |
Pituitary hormone defi ciency: Role of chromatin architecture in disease ... |
2016 |
| Details |
Variants spectrum in 31 Chinese newborns with idiopathic seizures revealed... |
2016 |
| Details |
CONCLUSIONS:... |
2016 |
| Details |
Discovery of mosaic point mutations in pediatric cancer using whole-ex- ome... |
2016 |
| Details |
Exploring the content and process of returning results from exome sequenci... |
2016 |
| Details |
premutation carriers.... |
2016 |
| Details |
Interrogating gene-by-environment interactions using genetic risk scores.... |
2016 |
| Details |
Molecular diagnosis of lung cancers.... |
2016 |
| Details |
Evaluation of the parental origin of the chromosomes by using SNP genotype... |
2016 |
| Details |
Genome-wide associations of objective activity-monitor derived mea- sures o... |
2016 |
| Details |
Whole genome sequencing in a multigenerational family with a specif- ic def... |
2016 |
| Details |
genetic mutations causal to achondroplasia.... |
2016 |
| Details |
GenAMap on the web: Intuitive and scalable machine learning for structured... |
2016 |
| Details |
mutations.... |
2016 |
| Details |
Conclusions:... |
2016 |
| Details |
Re-evaluation of a negative clinical exome reveals a novel candidate for c... |
2016 |
| Details |
Accelerating medical genomics through functional mapping of clinical genom... |
2016 |
| Details |
Development of a practice model of genomic counseling for actionable compl... |
2016 |
| Details |
exon 20 splicing by splice switching oligonucle- otides.... |
2016 |
| Details |
Haplotype-based predictors for complex trait association.... |
2016 |
| Details |
mutation by using malignant pleural eff usion samples from non-small-cel... |
2016 |
| Details |
Opportunity and challenge of applying clinical exome for critical newborn ... |
2016 |
| Details |
Genome-wide association studies identify two novel susceptibility loci to ... |
2016 |
| Details |
Polygenic risk scores reveal patterns of assortative mating and antic- ipat... |
2016 |
| Details |
Imputation of gene expression implicates expected and unexpected genes ass... |
2016 |
| Details |
Incorporating topologically associating domain content into pathway analys... |
2016 |
| Details |
Introduction... |
2016 |
| Details |
Severe growth retardation, microcephaly, intellectual disability, and char... |
2016 |
| Details |
by inhibition of gap junction channels formation.... |
2016 |
| Details |
Predicting regulatory variants with composite statistic.... |
2016 |
| Details |
A novel framework for optimizing the value of personalized medicine co-dep... |
2016 |
| Details |
deletions with break- points not located within the known NAHR hotspots PR... |
2016 |
| Details |
The eff ect of varying selection criteria at each stage of tiled regressio... |
2016 |
| Details |
Conclusions: ... |
2016 |
| Details |
A case of maternal UPD 20 in an infant with severe feeding diffi culties,... |
2016 |
| Details |
Novel locus discovery through trans-ethnic association analyses of gly- cem... |
2016 |
| Details |
Leveraging polygenic risk scores to discover novel biomarkers of disease i... |
2016 |
| Details |
A novel method for gene set enrichment analysis of ExomeChip data, EC-DEPI... |
2016 |
| Details |
Picopili: Development and evaluation of a pipeline for quality control, im... |
2016 |
| Details |
Discussion... |
2016 |
| Details |
increases risk for frontotemporal dementia.... |
2016 |
| Details |
Mandibulofacial dysostosis with alopecia: Report of an adult case with a n... |
2016 |
| Details |
Identifi cation of target lincRNA associated with prostate cancer risk lo... |
2016 |
| Details |
Raw DNA availability and downstream implications for genetic service provi... |
2016 |
| Details |
Single Molecule, Real-Time (SMRT) Sequencing of expanded spinocer- ebellar ... |
2016 |
| Details |
Trans-ethnic comparison of partitioned heritability reveals shared cell-ty... |
2016 |
| Details |
Germline mutations in 94 cancer predisposition genes among large ep- itheli... |
2016 |
| Details |
Non-invasive prenatal detection of fetal aneuploidies by targeted semi- con... |
2016 |
| Details |
Genome-wide association study of 1,5-anhydroglucitol in adults without dia... |
2016 |
| Details |
Integrative genomic analysis reveals casual role of genes and networks inv... |
2016 |
| Details |
Skeletal phenomics in zebrafi sh via microCT-based barcoding.... |
2016 |
| Details |
Beacon Network: A system for global genomic data sharing.... |
2016 |
| Details |
Elevated testosterone levels in mice defi cient for the chromatin modify- ... |
2016 |
| Details |
Relationship between various clinical features in a genotyped population i... |
2016 |
| Details |
pathogenic variants in genes associated with autosomal reces- sive disease... |
2016 |
| Details |
Consideration for applying machine learning methods to GWAS data to predic... |
2016 |
| Details |
Evaluating the cost-eff ectiveness of sequential monitoring tests.... |
2016 |
| Details |
Background:... |
2016 |
| Details |
Estimating the frequency dependence of SNP eff ect sizes in human complex... |
2016 |
| Details |
Taming concerns regarding the accuracy of laboratory clinical data: A deta... |
2016 |
| Details |
Evaluation of non-invasive prenatal testing for fetal aneuploidies in Kore-... |
2016 |
| Details |
Genome-wide association analysis identifi es novel loci associated with c... |
2016 |
| Details |
Transcriptomic signatures of schizophrenia revealed by dopamine per- turbat... |
2016 |
| Details |
VICTOR: A pipeline for Variant Interpretation in Clinical Testing Or Resea... |
2016 |
| Details |
Phased human genome assemblies with single-molecule real-time sequencing.... |
2016 |
| Details |
Loss of the lipid phosphatase Inpp4b in mature osteoblasts aff ects bone ... |
2016 |
| Details |
mutations causing severe global devel- opmental delay and overlapping phen... |
2016 |
| Details |
Werners syndrome: First case report in Colombia.... |
2016 |
| Details |
Inferring evolution structure based on copy number aberration from head an... |
2016 |
| Details |
Predictors of anxiety and depression in caregivers of children with chroni... |
2016 |
| Details |
Modeling ring chromosomes: Ring structure aff ects gene expression both f... |
2016 |
| Details |
Contrasting regulatory architectures of complex traits.... |
2016 |
| Details |
-rearranged acute myeloid leukemia using targeted next generation sequen... |
2016 |
| Details |
Conclusion: ... |
2016 |
| Details |
Conclusions: ... |
2016 |
| Details |
A second update on susceptibility genes for nicotine dependence identi- fi ... |
2016 |
| Details |
Birth prevalence estimation of severe Hypophosphatasia in European populat... |
2016 |
| Details |
Grouped variable selection methods for microbiome compositional data.... |
2016 |
| Details |
Analysis of the interplay of lysosomal/autophagosomal pathways in osteocla... |
2016 |
| Details |
Background... |
2016 |
| Details |
Isolated optic nerve hypoplasia in 5 family trios: A clinical and exome st... |
2016 |
| Details |
Statistical approaches for network-driven discovery and interpretation of ... |
2016 |
| Details |
Status of trainee funding in ABMGG laboratory training programs.... |
2016 |
| Details |
Evaluation of the contribution of complex structural variation at the 17q2... |
2016 |
| Details |
Testing family association with rare and common variants via wavelet trans... |
2016 |
| Details |
Background:... |
2016 |
| Details |
MMP-8 and TIMP-1 expression in pressure ulcer management through negative ... |
2016 |
| Details |
Genome-wide association study of iron traits in relation to diabetes mel- l... |
2016 |
| Details |
Genetic and phenotypic heterogeneity of mood disorders in a large mul- tige... |
2016 |
| Details |
Cross-phenotype analyses of three clinical measures of multiple scle- rosis... |
2016 |
| Details |
The spectrum of loss of function tolerance in the human genome.... |
2016 |
| Details |
cause X-linked osteogenesis imperfecta and demonstrate a fundamental role... |
2016 |
| Details |
Sequencing... |
2016 |
| Details |
Understanding the genetic basis of very early onset infl ammatory bowel d... |
2016 |
| Details |
Accurate prediction of breast cancer risk based on fl ow variant analysis ... |
2016 |
| Details |
Primary care providers experiences and perceptions of personal- ized medici... |
2016 |
| Details |
Urea concentration is increased in the brains of Huntingtons disease patie... |
2016 |
| Details |
Identity-by-descent as a proxy rare variant association test in large-scale... |
2016 |
| Details |
Conclusion:... |
2016 |
| Details |
Copy number variation in Thai individuals with autism spectrum disorder.... |
2016 |
| Details |
Opposite eff ects of maternal and paternal alleles on body mass index in ... |
2016 |
| Details |
gene variation and fear related to dental care: Evidence of fear of pain ... |
2016 |
| Details |
Replacing MLPA by XHMM for CNV detection on targeted panel NGS data in a d... |
2016 |
| Details |
Modeling the eff ects of linkage disequilibrium and allele specifi c expr... |
2016 |
| Details |
ERAP1 defi cient mice phenocopy the major fi ndings of humans with ankyl... |
2016 |
| Details |
Conclusions... |
2016 |
| Details |
National Institute on Aging Cell Repository.... |
2016 |
| Details |
Introduction. ... |
2016 |
| Details |
Awareness, respect, and confi dence: Increasing community conversa- tion a... |
2016 |
| Details |
Expression and proteomic analyses of KIF1A/25B in hereditary sensory and a... |
2016 |
| Details |
Adjusting missing confounders in epigenome-wide association studies.... |
2016 |
| Details |
copy number with response to pre-chemother- apy abiraterone acetate in met... |
2016 |
| Details |
genes using PharmacoScan Assay.... |
2016 |
| Details |
genotype on changes of glucose metabolism in response to weight-loss diet... |
2016 |
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Contribution of common genetic variation to risk for severe developmen- tal... |
2016 |
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Cell specifi c, network-based pathway analysis of GWAS data provides furt... |
2016 |
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Navigating GRCh38 at NCBI.... |
2016 |
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-null mice provide evidence for a novel endoplasmic reticulum com- plex r... |
2016 |
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Sleep movement disorders in adults with 22q11.2 deletion: A new dopa- mine-... |
2016 |
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Multidisciplinary Mendelian gene discovery and clinical translation.... |
2016 |
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Materials and methods. ... |
2016 |
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Common threads: Refl ective practice connecting medical genetics concepts... |
2016 |
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Expression and proteomic analyses of KIF1A/25B in hereditary sensory and a... |
2016 |
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Improving imputation accuracy by inferring causal variants in genetic stud... |
2016 |
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Background.... |
2016 |
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Successful detection of pathogenic copy number variations in patients with... |
2016 |
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Joint eff ects of common genetic variants for type 2 diabetes on the risk... |
2016 |
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Novel genetic variants in X-linked genes identifi ed in children with apra... |
2016 |
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INFERNO INFERring the molecular mechanisms of NOncoding genetic variants.... |
2016 |
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HapRFN: A deep learning method to identify short IBD segments.... |
2016 |
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regulatory landscape.... |
2016 |
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: Case report and discussion of proposed neural mechanism.... |
2016 |
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frame-shift muta- tion responsible for fetal demise in a large multigenera... |
2016 |
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Epigenome-based drug repositioning for acute myeloid leukemia.... |
2016 |
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Genetics Home Reference website as a point-of-care resource in the genomic... |
2016 |
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Integrated gene co-expression network analysis reveals genotype-phe- notype... |
2016 |
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A new sparse Bayesian method for multi-trait genome wide association studi... |
2016 |
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Materials and Methods.... |
2016 |
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Nomenclature matters: A collaboration to bridge the gap between ISCN and H... |
2016 |
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New insights into the control of obesigenic pathways - A comprehen- sive pr... |
2016 |
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Investigating the prevalence of treatable genetic disorders with neu- ropsy... |
2016 |
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In silico functional annotation of genomic variants: Application to the Al... |
2016 |
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Association analysis as a service.... |
2016 |
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Functional modeling of Bainbridge-Ropers syndrome (BRS) mutations suggests... |
2016 |
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A 78 kb interchromosomal insertion from 8q24.3 into a mutation hotspot pal... |
2016 |
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CRISPR/Cas9 as a therapeutic tool for the germline correction of the BBS1 ... |
2016 |
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digestion and ligation protocol.... |
2016 |
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The impact of personal experience with direct-to-consumer genetic testing ... |
2016 |
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Role of the Prader-Willi Syndrome protein MAGEL2 in intracellular pathways... |
2016 |
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Detection of recessive selection identifi es non-additive components of c... |
2016 |
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Multiplex TaqMan assays for rare mutation analysis using digital PCR.... |
2016 |
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Mechanistic analysis of interchromosomal insertional translocation.... |
2016 |
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mutations: The Insulin Resistance Atherosclerosis Family Study (IRASFS).... |
2016 |
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locus for schizo- phrenia.... |
2016 |
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Mutational burden analysis of interaction networks in inherited neu- ropath... |
2016 |
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Leveraging deep genealogical structure to estimate the phenotypic con- trib... |
2016 |
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Conclusion... |
2016 |
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Methods and results:... |
2016 |
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Case vignettes of clinical and genetic disease discovery at the Stanford C... |
2016 |
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Gene set analysis methods: A systematic comparison.... |
2016 |
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Development of a consent resource for genomic data sharing in the clin- ica... |
2016 |
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Deep sequencing reveal variations in somatic cell mosaic mutations between... |
2016 |
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A unifi ed approach to estimating population structure and relatedness.... |
2016 |
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A sensitive method for circulating DNA library preparation.... |
2016 |
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Detection of constitutional copy number variation in saliva DNA using the ... |
2016 |
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A study on genetic variation associated with visceral adipose tissue and i... |
2016 |
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ADHD, IQ, and inherited deletions in Canadian children with 22q11.2 deleti... |
2016 |
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A novel statistical methods for inferring causal expression-phenotype netw... |
2016 |
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Improving power of association tests using genotypes imputed from diff er... |
2016 |
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Pigmented 3D skin models made from patient-specifi c iPS cell-derived mel... |
2016 |
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Huntington disease reduced penetrance alleles occur at high frequency in t... |
2016 |
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gene muta- tions causing severe Hemophilia B.... |
2016 |
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Sensitive and reliable variant detection from challenging samples.... |
2016 |
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An online tool for applying the ABMGG laboratory training program mile- sto... |
2016 |