A map of human genome variation from population-scale sequencing - Wikidata - awgldk - TriplyDB

A map of human genome variation from population-scale sequencing

A map of human genome variation from population-scale sequencing

http://www.wikidata.org/entity/Q24617794

about

Analysis of variation at transcription factor binding sites in Drosophila and humans Bacteria-human somatic cell lateral gene transfer is enriched in cancer samples The date of interbreeding between Neandertals and modern humans Molecular dissection of the basal clades in the human Y chromosome phylogenetic tree Double digest RADseq: an inexpensive method for de novo SNP discovery and genotyping in model and non-model species A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant Transmission distortion affecting human noncrossover but not crossover recombination: a hidden source of meiotic drive Early Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical Patient SSW library: an SIMD Smith-Waterman C/C++ library for use in genomic applications Single nucleotide polymorphisms of human STING can affect innate immune response to cyclic dinucleotides Systematic pharmacogenomics analysis of a Malay whole genome: proof of concept for personalized medicine Fast association tests for genes with FAST Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F Predicting cell types and genetic variations contributing to disease by combining GWAS and epigenetic data Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13)Very few RNA and DNA sequence differences in the human transcriptome Major population expansion of East Asians began before neolithic time: evidence of mtDNA genomes Evolution and taxonomic classification of human papillomavirus 16 (HPV16)-related variant genomes: HPV31, HPV33, HPV35, HPV52, HPV58 and HPV67 FAM20A mutations can cause enamel-renal syndrome (ERS).Gene copy-number polymorphism caused by retrotransposition in humans Comparison of family history and SNPs for predicting risk of complex disease Genomic data reveal a complex making of humans Genome-wide copy number analysis uncovers a new HSCR gene: NRG3 A genome-wide screen for genetic variants that modify the recruitment of REST to its target genes Phased whole-genome genetic risk in a family quartet using a major allele reference sequence A two-stage meta-analysis identifies several new loci for Parkinson's disease Chapter 11: Genome-wide association studies Modernizing reference genome assemblies "Genotype-first" approaches on a curious case of idiopathic progressive cognitive decline Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement Retrotransposition of gene transcripts leads to structural variation in mammalian genomes The GENCODE pseudogene resource Predicting the effects of frameshifting indels A comparative analysis of exome capture Suggested guidelines for the diagnosis and management of urea cycle disorders Human genetics and genomics a decade after the release of the draft sequence of the human genome Generation of SNP datasets for orangutan population genomics using improved reduced-representation sequencing and direct comparisons of SNP calling algorithms.Implication of next-generation sequencing on association studies Implementing a genomic data management system using iRODS in the Wellcome Trust Sanger Institute Mitogenomes from two uncommon haplogroups mark late glacial/postglacial expansions from the near east and neolithic dispersals within Europe

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A map of human genome variation from population-scale sequencing

http://www.wikidata.org/entity/Q24617794

description

2010 nî lūn-bûn

@nan

2010 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի հոտեմբերին հրատարակված գիտական հոդված

@hy

2010年の論文

@ja

2010年論文

@yue

2010年論文

@zh-hant

2010年論文

@zh-hk

2010年論文

@zh-mo

2010年論文

@zh-tw

2010年论文

@wuu

name

A map of human genome variation from population-scale sequencing

@ast

A map of human genome variation from population-scale sequencing

@en

A map of human genome variation from population-scale sequencing

@nl

type

label

A map of human genome variation from population-scale sequencing

@ast

A map of human genome variation from population-scale sequencing

@en

A map of human genome variation from population-scale sequencing

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prefLabel

A map of human genome variation from population-scale sequencing

@ast

A map of human genome variation from population-scale sequencing

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A map of human genome variation from population-scale sequencing

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A map of human genome variation from population-scale sequencing

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Gil A McVean

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Gonçalo R Abecasis

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Lisa D Brooks

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Matt E Hurles

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Richard A Gibbs

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The diploid genome sequence of an individual human

A predominantly neolithic origin for European paternal lineages

A map of recent positive selection in the human genome

The diploid genome sequence of an Asian individual

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

Finding the missing heritability of complex diseases

Population genomics of domestic and wild yeasts

The complete genome of an individual by massively parallel DNA sequencing

Finishing the euchromatic sequence of the human genome

Meta-analysis and imputation refines the association of 15q25 with smoking quantity

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1061-1073

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scholarly article

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33692

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10.1038/NATURE09534

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7319

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467

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1000 Genomes Project

Richard M. Durbin

David Altshuler

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2010-10-01T00:00:00Z

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224890400

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1010608717

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20981092

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3042601

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