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

doi:10.1038/s41588-021-00800-7

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Article

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

Nature genetics - 1 Mar 2021

Bonder Marc Jan, Smail Craig, Gloudemans Michael J, Frésard Laure, Jakubosky David, D'Antonio Matteo, Li Xin, Ferraro Nicole M, Carcamo-Orive Ivan, Mirauta Bogdan, Seaton Daniel D, Cai Na, Vakili Dara, Horta Danilo, Zhao Chunli, Zastrow Diane B, Bonner Devon E, Wheeler Matthew T, Kilpinen Helena, Knowles Joshua W, Smith Erin N, Frazer Kelly A, Montgomery Stephen B, Stegle Oliver

Abstract excerpt

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...

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Identifiers

PMID: 33664507
DOI: 10.1038/s41588-021-00800-7
PMCID: PMC7944648

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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