Evolution and functional impact of rare coding variation from deep sequencing of human exomes
about
Exome sequencing identifies DLG1 as a novel gene for potential susceptibility to Crohn's disease in a Chinese family studyInferring clonal composition from multiple sections of a breast cancerAn integrated map of genetic variation from 1,092 human genomesA novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxiaRelated F-box proteins control cell death in Caenorhabditis elegans and human lymphomaDisruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalitiesWhole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophyThe great human expansionXLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencingNovel bioinformatic developments for exome sequencingThe Brugada Syndrome: A Rare Arrhythmia Disorder with Complex InheritanceMedical case reports in the age of genomic medicineGenetics and genomics of psychiatric diseaseOpportunities and Challenges of Genotyping Patients With Nephrotic Syndrome in the Genomic EraChallenges in medical applications of whole exome/genome sequencing discoveriesRole of genetics in pediatric inflammatory bowel diseaseDevelopments in our understanding of the genetic basis of birth defectsMassively parallel sequencing: the new frontier of hematologic genomicsAnalysis of protein-coding genetic variation in 60,706 humansRare-variant association analysis: study designs and statistical testsGenotyping and phenotyping of platelet function disordersGenomics, personalized medicine, and pediatricsThe canid genome: behavioral geneticists' best friend?Molecular mechanisms of disease-causing missense mutationsExome sequencing and complex disease: practical aspects of rare variant association studiesGenetic linkage analysis in the age of whole-genome sequencingA public resource facilitating clinical use of genomesA novel mutation in CELSR1 is associated with hereditary lymphedemaExplosive genetic evidence for explosive human population growthUnderstanding rare and common diseases in the context of human evolutionThe genetic heterogeneity of colorectal cancer predisposition - guidelines for gene discoveryThe Importance of Patient-Specific Factors for Hepatic Drug Response and ToxicityGene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial featuresMultiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disordersEnsembl 2013The genetics of dilated cardiomyopathy: a prioritized candidate gene study of LMNA, TNNT2, TCAP, and PLNComplete mitochondrial genomes of ancient canids suggest a European origin of domestic dogs267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic VariationCharacterization of population-based variation and putative functional elements for the multiple-cancer susceptibility loci at 5p15.33Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress
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P2860
Evolution and functional impact of rare coding variation from deep sequencing of human exomes
description
2012 nî lūn-bûn
@nan
2012 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Evolution and functional impac ...... eep sequencing of human exomes
@ast
Evolution and functional impac ...... eep sequencing of human exomes
@en
type
label
Evolution and functional impac ...... eep sequencing of human exomes
@ast
Evolution and functional impac ...... eep sequencing of human exomes
@en
prefLabel
Evolution and functional impac ...... eep sequencing of human exomes
@ast
Evolution and functional impac ...... eep sequencing of human exomes
@en
P2093
P2860
P50
P921
P3181
P356
P1433
P1476
Evolution and functional impac ...... eep sequencing of human exomes
@en
P2093
Bamshad MJ
P2860
P3181
P356
10.1126/SCIENCE.1219240
P407
P5008
P577
2012-07-06T00:00:00Z