Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
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From mouse to human: evolutionary genomics analysis of human orthologs of essential genesAn in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophyCLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegenerationPOT1 loss-of-function variants predispose to familial melanomaEnsembl 2014An unbiased resource of novel SNP markers provides a new chronology for the human Y chromosome and reveals a deep phylogenetic structure in AfricaPhosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damageXLID-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 InheritanceHuman Knockout Carriers: Dead, Diseased, Healthy, or Improved?Cracking the Code of Human Diseases Using Next-Generation Sequencing: Applications, Challenges, and PerspectivesInsights into blood lipids from rare variant discoveryMolecular Testing in Myelodysplastic Syndromes for the Practicing Oncologist: Will the Progress Fulfill the Promise?Massively parallel sequencing: the new frontier of hematologic genomicsAnalysis of protein-coding genetic variation in 60,706 humansRare-variant association analysis: study designs and statistical testsChallenges in elucidating the genetics of diabetic retinopathyUse of contemporary genetics in cardiovascular diagnosisGenetics and disease of ventricular muscle.Mutational signatures associated with tobacco smoking in human cancerExplosive genetic evidence for explosive human population growthUnderstanding rare and common diseases in the context of human evolutionPopulation genetic studies in the genomic sequencing eraHuman variants in the neuronal basic helix-loop-helix/Per-Arnt-Sim (bHLH/PAS) transcription factor complex NPAS4/ARNT2 disrupt functionThe neXtProt knowledgebase on human proteins: current statusTargeted capture and resequencing of 1040 genes reveal environmentally driven functional variation in grey wolvesInactivating CUX1 mutations promote tumorigenesisTargeted sequencing in chromosome 17q linkage region identifies familial glioma candidates in the Gliogene Consortium267 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 5p15.33Exome Analyses of Long QT Syndrome Reveal Candidate Pathogenic Mutations in Calmodulin-Interacting GenesDemonstration of Protein-Based Human Identification Using the Hair Shaft ProteomeFire Usage and Ancient Hominin Detoxification Genes: Protective Ancestral Variants Dominate While Additional Derived Risk Variants Appear in Modern HumansTesting the role of predicted gene knockouts in human anthropometric trait variationProgress in methods for rare variant associationLeveraging Distant Relatedness to Quantify Human Mutation and Gene-Conversion RatesRare variant discovery by deep whole-genome sequencing of 1,070 Japanese individualsLow-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibilitySelf-reported race/ethnicity in the age of genomic research: its potential impact on understanding health disparities
P2860
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P2860
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
description
2012 nî lūn-bûn
@nan
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
2012年论文
@zh
2012年论文
@zh-cn
name
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
@en
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
@en-gb
type
label
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
@en
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
@en-gb
prefLabel
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
@en
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
@en-gb
P2093
P2860
P50
P356
P1433
P1476
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
@en
P2093
Deborah A Nickerson
Hyun Min Kang
Joshua M Akey
Mark J Rieder
Michael J Bamshad
NHLBI Exome Sequencing Project
Suzanne M Leal
Wenqing Fu
P2860
P2888
P304
P356
10.1038/NATURE11690
P407
P577
2012-11-28T00:00:00Z
P5875
P6179
1008701542