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Transcriptome and genome sequencing uncovers functional variation in humans.

Nature | Sep 26, 2013

Genome sequencing projects are discovering millions of genetic variants in humans, and interpretation of their functional effects is essential for understanding the genetic basis of variation in human traits. Here we report sequencing and deep analysis of messenger RNA and microRNA from lymphoblastoid cell lines of 462 individuals from the 1000 Genomes Project--the first uniformly processed high-throughput RNA-sequencing data from multiple human populations with high-quality genome sequences. We discover extremely widespread genetic variation affecting the regulation of most genes, with transcript structure and expression level variation being equally common but genetically largely independent. Our characterization of causal regulatory variation sheds light on the cellular mechanisms of regulatory and loss-of-function variation, and allows us to infer putative causal variants for dozens of disease-associated loci. Altogether, this study provides a deep understanding of the cellular mechanisms of transcriptome variation and of the landscape of functional variants in the human genome.

Pubmed ID: 24037378 RIS Download

Mesh terms: Alleles | Cell Line, Transformed | Exons | Gene Expression Profiling | Genetic Variation | Genome, Human | High-Throughput Nucleotide Sequencing | Humans | Polymorphism, Single Nucleotide | Quantitative Trait Loci | RNA, Messenger | Sequence Analysis, RNA | Transcriptome

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Associated grants

  • Agency: Wellcome Trust, Id: 090532/Z/09/Z
  • Agency: Wellcome Trust, Id: 083270
  • Agency: Wellcome Trust, Id: 090532
  • Agency: Wellcome Trust, Id: 095552
  • Agency: Wellcome Trust, Id: 075491/Z/04/B
  • Agency: Wellcome Trust, Id: 076113
  • Agency: NIMH NIH HHS, Id: MH090941
  • Agency: Wellcome Trust, Id: 095552/Z/11/Z
  • Agency: Wellcome Trust, Id: 090367
  • Agency: Wellcome Trust, Id: 085475/B/08/Z
  • Agency: NIMH NIH HHS, Id: R01 MH090941
  • Agency: Wellcome Trust, Id: 098381
  • Agency: NIGMS NIH HHS, Id: R01 GM104371
  • Agency: Wellcome Trust, Id: 085532
  • Agency: Medical Research Council, Id: G0601261
  • Agency: Wellcome Trust, Id: 085475/Z/08/Z
  • Agency: Wellcome Trust, Id: 081917

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GWAS: Catalog of Published Genome-Wide Association Studies

Database of genome-wide association study (GWAS) publications including only those attempting to assay at least 100,000 single nucleotide polymorphisms (SNPs). Publications are organized from most to least recent date of publication. Studies focusing only on candidate genes are excluded from this catalog. Studies are identified through weekly PubMed literature searches, daily NIH-distributed compilations of news and media reports, and occasional comparisons with an existing database of GWAS literature (HuGE Navigator).


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