Journal
NATURE
Volume 501, Issue 7468, Pages 506-511Publisher
NATURE PORTFOLIO
DOI: 10.1038/nature12531
Keywords
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Categories
Funding
- European Commission [261123]
- Swiss National Science Foundation [130326, 130342, 127375, 144082]
- Louis Jeantet Foundation
- ERC [260927, 294653, 249968]
- NIH-NIMH [MH090941]
- Spanish Plan Nacional (NOVADIS) [SAF2008-00357]
- Generalitat de Catalunya AGAUR [2009 SGR-1502]
- Instituto de Salud Carlos III (FIS/FEDER) [PI11/00733, PS09/02368]
- Spanish Plan Nacional [BIO2011-26205]
- ESGI
- READNA [2008-201418]
- Spanish Ministry of Economy and Competitiveness (MINECO)
- Generalitat de Catalunya
- DFG Cluster of Excellence Inflammation at Interfaces
- INTERREG4A project HIT-ID
- BMBF IHEC project DEEP [SP 2.3]
- German Centre for Cardiovascular Research (DZHK)
- German Ministry of Education and Research [01GR0802, 01GM0867, 01GR0804, 16EX1020C]
- EurocanPlatform [FP7 260791]
- ENGAGE [HEALTH-F4-2007-201413]
- CAGEKID [241669]
- Centre for Medical Systems Biology
- Swedish Research Council [C0524801, A028001]
- Knut and Alice Wallenberg Foundation [2011.0073]
- German Federal Ministry of Education and Research [01GS08201]
- Max Planck Society
- Wellcome Trust [WT085532, 081917, 090367, 090532, 098381, 076113, 083270]
- European Molecular Biology Laboratory
- Medical Research Council UK [G0601261]
- Wellcome Trust Centre for Human Genetics [090532/Z/09/Z, 075491/Z/04/B]
- WTCCC2 project [085475/B/08/Z, 085475/Z/08/Z]
- Royal Society Wolfson Merit Award
- Wellcome Trust Senior Investigator Award [095552/Z/11/Z]
- EMBO long-term fellowship EMBO-ALTF [2010-337]
- NIH-NIGMS [R01 GM104371]
- Marie Curie
- Clarendon Fund of the University of Oxford
- Nuffield Department of Medicine
- EMBO long-term fellowship [ALTF225-2011]
- Emil Aaltonen Foundation
- Academy of Finland
- European Research Council (ERC) [294653, 260927] Funding Source: European Research Council (ERC)
- Medical Research Council [G0601261] Funding Source: researchfish
- MRC [G0601261] Funding Source: UKRI
- Wellcome Trust [095552/Z/11/Z] Funding Source: Wellcome Trust
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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.
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