showing 6506 abstracts

results from 'American Society of Human Genetics' where authors matches anything

Details 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
Details Contribution of common genetic variation to risk for severe developmen- tal... 2016
Details Cell specifi c, network-based pathway analysis of GWAS data provides furt... 2016
Details Navigating GRCh38 at NCBI.... 2016
Details -null mice provide evidence for a novel endoplasmic reticulum com- plex r... 2016
Details Sleep movement disorders in adults with 22q11.2 deletion: A new dopa- mine-... 2016
Details Multidisciplinary Mendelian gene discovery and clinical translation.... 2016
Details Materials and methods. ... 2016
Details Common threads: Refl ective practice connecting medical genetics concepts... 2016
Details Expression and proteomic analyses of KIF1A/25B in hereditary sensory and a... 2016
Details Improving imputation accuracy by inferring causal variants in genetic stud... 2016
Details Background.... 2016
Details Successful detection of pathogenic copy number variations in patients with... 2016
Details Joint eff ects of common genetic variants for type 2 diabetes on the risk... 2016
Details Novel genetic variants in X-linked genes identifi ed in children with apra... 2016
Details INFERNO INFERring the molecular mechanisms of NOncoding genetic variants.... 2016
Details HapRFN: A deep learning method to identify short IBD segments.... 2016
Details regulatory landscape.... 2016
Details : Case report and discussion of proposed neural mechanism.... 2016
Details frame-shift muta- tion responsible for fetal demise in a large multigenera... 2016
Details Epigenome-based drug repositioning for acute myeloid leukemia.... 2016
Details Genetics Home Reference website as a point-of-care resource in the genomic... 2016
Details Integrated gene co-expression network analysis reveals genotype-phe- notype... 2016
Details A new sparse Bayesian method for multi-trait genome wide association studi... 2016
Details Materials and Methods.... 2016
Details Nomenclature matters: A collaboration to bridge the gap between ISCN and H... 2016
Details New insights into the control of obesigenic pathways - A comprehen- sive pr... 2016
Details Investigating the prevalence of treatable genetic disorders with neu- ropsy... 2016
Details In silico functional annotation of genomic variants: Application to the Al... 2016
Details Association analysis as a service.... 2016
Details Functional modeling of Bainbridge-Ropers syndrome (BRS) mutations suggests... 2016
Details A 78 kb interchromosomal insertion from 8q24.3 into a mutation hotspot pal... 2016
Details CRISPR/Cas9 as a therapeutic tool for the germline correction of the BBS1 ... 2016
Details digestion and ligation protocol.... 2016
Details The impact of personal experience with direct-to-consumer genetic testing ... 2016
Details Role of the Prader-Willi Syndrome protein MAGEL2 in intracellular pathways... 2016
Details Detection of recessive selection identifi es non-additive components of c... 2016
Details Multiplex TaqMan assays for rare mutation analysis using digital PCR.... 2016
Details Mechanistic analysis of interchromosomal insertional translocation.... 2016
Details mutations: The Insulin Resistance Atherosclerosis Family Study (IRASFS).... 2016
Details locus for schizo- phrenia.... 2016
Details Mutational burden analysis of interaction networks in inherited neu- ropath... 2016
Details Leveraging deep genealogical structure to estimate the phenotypic con- trib... 2016
Details Conclusion... 2016
Details Methods and results:... 2016
Details Case vignettes of clinical and genetic disease discovery at the Stanford C... 2016
Details Gene set analysis methods: A systematic comparison.... 2016
Details Development of a consent resource for genomic data sharing in the clin- ica... 2016
Details Deep sequencing reveal variations in somatic cell mosaic mutations between... 2016
Details A unifi ed approach to estimating population structure and relatedness.... 2016
Details A sensitive method for circulating DNA library preparation.... 2016
Details Detection of constitutional copy number variation in saliva DNA using the ... 2016
Details A study on genetic variation associated with visceral adipose tissue and i... 2016
Details ADHD, IQ, and inherited deletions in Canadian children with 22q11.2 deleti... 2016
Details A novel statistical methods for inferring causal expression-phenotype netw... 2016
Details Improving power of association tests using genotypes imputed from diff er... 2016
Details Pigmented 3D skin models made from patient-specifi c iPS cell-derived mel... 2016
Details Huntington disease reduced penetrance alleles occur at high frequency in t... 2016
Details gene muta- tions causing severe Hemophilia B.... 2016
Details Sensitive and reliable variant detection from challenging samples.... 2016
Details An online tool for applying the ABMGG laboratory training program mile- sto... 2016

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