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Transcriptome and genome sequencing uncovers functional variation in humans

Published in Nature. 2013, vol. 501, no. 7468, p. 506-11
Abstract 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.
Keywords AllelesCell Line, TransformedExons/geneticsGene Expression ProfilingGenetic Variation/geneticsGenome, Human/geneticsHigh-Throughput Nucleotide SequencingHumansPolymorphism, Single Nucleotide/geneticsQuantitative Trait Loci/geneticsRNA, Messenger/analysis/geneticsSequence Analysis, RNATranscriptome/genetics
PMID: 24037378
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Research groups Pathologie Moléculaire de la Trisomie 21 et le Génome Humain (248)
Population Genomics and Genetics of Complex Traits (892)
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LAPPALAINEN, Tuuli Emilia et al. Transcriptome and genome sequencing uncovers functional variation in humans. In: Nature, 2013, vol. 501, n° 7468, p. 506-11. doi: 10.1038/nature12531 https://archive-ouverte.unige.ch/unige:34328

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Deposited on : 2014-02-14

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