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Bonder, M.J.* ; Smail, C.* ; Gloudemans, M.J.* ; Frésard, L.* ; Jakubosky, D.* ; D'Antonio, M.* ; Li, X.* ; Ferraro, N.M.* ; Carcamo-Orive, I.* ; Mirauta, B.* ; Seaton, D.D.* ; Cai, N. ; Vakili, D.* ; Horta, D.* ; Zhao, C.* ; Zastrow, D.B.* ; Bonner, D.E.* ; Wheeler, M.T.* ; Kilpinen, H.* ; Knowles, J.W.* ; Smith, E.N.* ; Frazer, K.A.* ; Montgomery, S.B.* ; Stegle, O.*

Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics.

Nat. Genet. 53, 313-321 (2021)

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Induced pluripotent stem cells (iPSCs) are an established cellular system to study the impact of genetic variants in derived cell types and developmental contexts. However, in their pluripotent state, the disease impact of genetic variants is less well known. Here, we integrate data from 1,367 human iPSC lines to comprehensively map common and rare regulatory variants in human pluripotent cells. Using this population-scale resource, we report hundreds of new colocalization events for human traits specific to iPSCs, and find increased power to identify rare regulatory variants compared with somatic tissues. Finally, we demonstrate how iPSCs enable the identification of causal genes for rare diseases.

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Publication type Article: Journal article

Document type Scientific Article

Corresponding Author

Keywords Gene-expression; Functional Variation; Susceptibility Loci; Reveals; Metaanalysis; Association; Provides; Burden; Impact; Gwas

ISSN (print) / ISBN 1061-4036

e-ISSN 1546-1718

Journal Nature Genetics

Quellenangaben Volume: 53, Issue: 3, Pages: 313-321

Publisher Nature Publishing Group

Publishing Place New York, NY

Non-patent literature Publications

Reviewing status Peer reviewed

Institute(s) Helmholtz Pioneer Campus (HPC)

Grants NIH Common Fund, through the Office of Strategic Coordination/Office of the NIH Director
Shanghai Municipal Science and Technology Major Project
National Key R&D Program of China
National Natural Science Foundation of China
Stanford Graduate Fellowship
National Institutes of Health (NIH)
EMBL
UK Medical Research Council
EBI-Sanger Postdoctoral Fellowship
National Science Foundation
NIH
European Union (ERC)
Volkswagen Foundation
BMBF
California Institute for Regenerative Medicine
Wellcome Trust