期刊
NATURE GENETICS
卷 53, 期 3, 页码 313-+出版社
NATURE RESEARCH
DOI: 10.1038/s41588-021-00800-7
关键词
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资金
- Wellcome Trust [WT098503, WT090851]
- UK Medical Research Council [WT098503]
- EMBL Interdisciplinary Postdoc (EI3POD) program under Marie Sklodowska-Curie Actions COFUND [664726]
- National Institutes of Health (NIH) [T32 LM012409, T15 LM01127, U01 HL107388-01, P30DK116074, SPO 130829, HL107442, DK105541, DK112155]
- Stanford Graduate Fellowship
- National Natural Science Foundation of China [31970554]
- National Key R&D Program of China [2019YFC1315804]
- Shanghai Municipal Science and Technology Major Project [2017SHZDZX01]
- EBI-Sanger Postdoctoral Fellowship
- National Science Foundation Graduate Research Fellowship
- California Institute for Regenerative Medicine [GC1R-06673]
- BMBF
- Volkswagen Foundation
- European Union (ERC project DECODE)
- NIH [U01HG009431, R01HL142015, R01HG008150, R01AG066490, U01HG009080, DK116750, DK120565, DK106236, DK107437, HL107388]
- NIH S10 instrumentation grant [S10OD023452]
- NIH Common Fund, through the Office of Strategic Coordination/Office of the NIH Director [U01HG007708]
By integrating data from 1,367 human iPSC lines, researchers comprehensively mapped common and rare regulatory variants in human pluripotent cells, identified new colocalization events specific to iPSCs, and demonstrated the utility of iPSCs in identifying causal genes for rare diseases.
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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