Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics.
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ABSTRACT:
SUBMITTER: Bonder MJ
PROVIDER: S-EPMC7944648 | biostudies-literature | 2021 Mar
REPOSITORIES: biostudies-literature
Publications
Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics.
Bonder Marc Jan MJ Smail Craig C Gloudemans Michael J MJ Frésard Laure L Jakubosky David D D'Antonio Matteo M Li Xin X Ferraro Nicole M NM Carcamo-Orive Ivan I Mirauta Bogdan B Seaton Daniel D DD Cai Na N Vakili Dara D Horta Danilo D Zhao Chunli C Zastrow Diane B DB Bonner Devon E DE Wheeler Matthew T MT Kilpinen Helena H Knowles Joshua W JW Smith Erin N EN Frazer Kelly A KA Montgomery Stephen B SB Stegle Oliver O
Nature genetics 20210304 3
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 trait ...[more]
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