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An integrated map of genetic variation from 1,092 human genomes

An integrated map of genetic variation from 1,092 human genomes

http://www.wikidata.org/entity/Q22122153

about

OTX2 duplication is implicated in hemifacial microsomia GROM-RD: resolving genomic biases to improve read depth detection of copy number variants Current challenges in the bioinformatics of single cell genomics.Tandem RNA chimeras contribute to transcriptome diversity in human population and are associated with intronic genetic variants Natural polymorphisms in human APOBEC3H and HIV-1 Vif combine in primary T lymphocytes to affect viral G-to-A mutation levels and infectivity Ancient human genomes suggest three ancestral populations for present-day Europeans Population genomics of the fission yeast Schizosaccharomyces pombe From mouse to human: evolutionary genomics analysis of human orthologs of essential genes Sequencing Y chromosomes resolves discrepancy in time to common ancestor of males versus females Integrative annotation of variants from 1092 humans: application to cancer genomics Sequencing pools of individuals — mining genome-wide polymorphism data without big funding Chimeric EWSR1-FLI1 regulates the Ewing sarcoma susceptibility gene EGR2 via a GGAA microsatellite Recombination affects accumulation of damaging and disease-associated mutations in human populations Resolving the complexity of the human genome using single-molecule sequencing Genetic studies of body mass index yield new insights for obesity biology Improved exome prioritization of disease genes through cross-species phenotype comparison Association claims in the sequencing era Jumping on the Train of Personalized Medicine: A Primer for Non-Geneticist Clinicians: Part 2. Fundamental Concepts in Genetic Epidemiology 'There and back again': revisiting the pathophysiological roles of human endogenous retroviruses in the post-genomic era Genetics of cognition in epilepsy Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy TNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28 A proteome-scale map of the human interactome network A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations CLYBL is a polymorphic human enzyme with malate synthase and β-methylmalate synthase activity Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal β-Barrel in Microsomal Triglyceride Transfer Protein Function Upper Palaeolithic Siberian genome reveals dual ancestry of Native Americans The bigger picture of FTO: the first GWAS-identified obesity gene POT1 loss-of-function variants predispose to familial melanoma PDBsum additions Ensembl 2014 A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP Gene flow from North Africa contributes to differential human genetic diversity in southern Europe An unbiased resource of novel SNP markers provides a new chronology for the human Y chromosome and reveals a deep phylogenetic structure in Africa Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage In search of low-frequency and rare variants affecting complex traits

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An integrated map of genetic variation from 1,092 human genomes

http://www.wikidata.org/entity/Q22122153

description

2012 nî lūn-bûn

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2012 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

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2012 թվականի նոյեմբերին հրատարակված գիտական հոդված

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2012年の論文

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2012年論文

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2012年論文

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An integrated map of genetic variation from 1,092 human genomes

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An integrated map of genetic variation from 1,092 human genomes

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An integrated map of genetic variation from 1,092 human genomes

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An integrated map of genetic variation from 1,092 human genomes

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An integrated map of genetic variation from 1,092 human genomes

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An integrated map of genetic variation from 1,092 human genomes

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An integrated map of genetic variation from 1,092 human genomes

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An integrated map of genetic variation from 1,092 human genomes

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An integrated map of genetic variation from 1,092 human genomes

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An integrated map of genetic variation from 1,092 human genomes

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An integrated map of genetic variation from 1,092 human genomes

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Hyun Min Kang

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Lisa D Brooks

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Mark A DePristo

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Robert E Handsaker

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A user's guide to the encyclopedia of DNA elements (ENCODE)

Fine mapping of five loci associated with low-density lipoprotein cholesterol detects variants that double the explained heritability

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

TNF receptor 1 genetic risk mirrors outcome of anti-TNF therapy in multiple sclerosis

Diversity of human copy number variation and multicopy genes

COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer

Mapping copy number variation by population-scale genome sequencing

A map of human genome variation from population-scale sequencing

Genotype imputation with thousands of genomes

Analysis of the vertebrate insulator protein CTCF-binding sites in the human genome

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10.1038/NATURE11632

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Gonçalo Abecasis

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2012-11-01T00:00:00Z

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