期刊
SCIENCE
卷 369, 期 6509, 页码 1332-+出版社
AMER ASSOC ADVANCEMENT SCIENCE
DOI: 10.1126/science.aaz8528
关键词
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资金
- Marie-Sklodowska Curie fellowship H2020 grant [706636]
- NIH [1K99HG009916-01, R01HG002585, R01 DA006227-17, DA006227, R01 MH090941, R01 MH090951]
- Ministerio de Economia y Competitividad [BIO2015-70777-P]
- FEDER funds
- Ministerio de Educacion, Cultura y Deporte [FPU15/03635]
- la Caixa Foundation [100010434, LCF/BQ/SO15/52260001]
- EU IMI program [UE7DIRECT-115317-1]
- FNS [31003A_149984]
- Massachusetts Lions Eye Research Fund Grant
- MRC [MR/R023131/1, MR/M004422/1]
- Biomedical Big Data Training Grant [5T32LM012424-03]
- Wellcome Trust
- European Community's Seventh Framework Programme (FP7/2007-2013)
- National Institute for Health Research (NIHR)-funded BioResource, Clinical Research Facility and Biomedical Research Centre based at Guy's and St Thomas' NHS Foundation Trust in partnership with King's College London
- Common Fund of the Office of the Director, U.S. National Institutes of Health (NIH)
- NCI
- NHGRI
- NHLBI
- NIDA
- NIMH
- NIA
- NIAID
- NINDS through NIH [HHSN261200800001E, 10XS170, 10XS171, 10X172, 12ST1039, 10ST1035, HHSN268201000029C, 5U41HG009494]
- Gordon and Betty Moore Foundation GBMF [4559, R01HG006855]
- NIH CTSA grant [UL1TR002550-01, R35HG010718, R01MH109905, 1R01HG010480]
- Searle Scholar Program [R01HG008150, 5T32HG000044-22]
- NHGRI Institutional Training Grant in Genome Science [F32HG009987]
- [R01 MH090937]
- [R01 MH090936]
- [R01MH101814]
- [U01HG007593]
- [R01MH101822]
- [U01HG007598]
- [U01MH104393]
- [R01MH106842]
- [R01HL142028]
- [R01GM122924]
- [R01MH107666]
- [P30DK020595]
- [UM1HG008901]
- [R01GM124486]
- [R01HG010067]
- MRC [MR/M004422/1, MR/R023131/1] Funding Source: UKRI
- Swiss National Science Foundation (SNF) [31003A_149984] Funding Source: Swiss National Science Foundation (SNF)
- Marie Curie Actions (MSCA) [706636] Funding Source: Marie Curie Actions (MSCA)
The Genotype-Tissue Expression (GTEx) project has identified expression and splicing quantitative trait loci in cis (QTLs) for the majority of genes across a wide range of human tissues. However, the functional characterization of these QTLs has been limited by the heterogeneous cellular composition of GTEx tissue samples. We mapped interactions between computational estimates of cell type abundance and genotype to identify cell type-interaction QTLs for seven cell types and show that cell type-interaction expression QTLs (eQTLs) provide finer resolution to tissue specificity than bulk tissue cis-eQTLs. Analyses of genetic associations with 87 complex traits show a contribution from cell type-interaction QTLs and enables the discovery of hundreds of previously unidentified colocalized loci that are masked in bulk tissue.
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