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

HIPSCI Consortium; iPSCORE Consortium; Undiagnosed Dis Network; PhLiPS Consortium; Marc Jan Bonder; Xin Li; Helena Kilpinen

doi:10.1038/s41588-021-00800-7

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

HIPSCI Consortium, iPSCORE Consortium, Undiagnosed Dis Network, PhLiPS Consortium, Marc Jan Bonder, Xin Li, Helena Kilpinen

Research output: Contribution to journal › Article › Scientific › peer-review

Original language	English
Journal	Nature Genetics
Volume	53
Issue number	3
Pages (from-to)	313–321
Number of pages	25
ISSN	1061-4036
DOIs	https://doi.org/10.1038/s41588-021-00800-7
Publication status	Published - 4 Mar 2021
MoE publication type	A1 Journal article-refereed

Fields of Science

GENE-EXPRESSION
FUNCTIONAL VARIATION
SUSCEPTIBILITY LOCI
REVEALS
METAANALYSIS
ASSOCIATION
PROVIDES
BURDEN
IMPACT
GWAS
1184 Genetics, developmental biology, physiology

Access to Document

10.1038/s41588-021-00800-7

Cite this

@article{099242181f0d4bfbb43f5353421c2f12,

title = "Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics",

keywords = "GENE-EXPRESSION, FUNCTIONAL VARIATION, SUSCEPTIBILITY LOCI, REVEALS, METAANALYSIS, ASSOCIATION, PROVIDES, BURDEN, IMPACT, GWAS, 1184 Genetics, developmental biology, physiology",

author = "{HIPSCI Consortium} and {iPSCORE Consortium} and {Undiagnosed Dis Network} and {PhLiPS Consortium} and Bonder, {Marc Jan} and Craig Smail and Gloudemans, {Michael J.} and Laure Fresard and David Jakubosky and Matteo D'Antonio and Xin Li and Ferraro, {Nicole M.} and Ivan Carcamo-Orive and Bogdan Mirauta and Seaton, {Daniel D.} and Na Cai and Dara Vakili and Danilo Horta and Chunli Zhao and Zastrow, {Diane B.} and Bonner, {Devon E.} and Brown, {Christopher D.} and Yoson Park and Wheeler, {Matthew T.} and Helena Kilpinen and Knowles, {Joshua W.} and Smith, {Erin N.} and Frazer, {Kelly A.} and Montgomery, {Stephen B.} and Oliver Stegle",

year = "2021",

month = mar,

day = "4",

doi = "10.1038/s41588-021-00800-7",

language = "English",

volume = "53",

pages = "313–321",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Publishing Group",

number = "3",

}

TY - JOUR

T1 - Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics

AU - HIPSCI Consortium

AU - iPSCORE Consortium

AU - Undiagnosed Dis Network

AU - PhLiPS Consortium

AU - Bonder, Marc Jan

AU - Smail, Craig

AU - Gloudemans, Michael J.

AU - Fresard, Laure

AU - Jakubosky, David

AU - D'Antonio, Matteo

AU - Li, Xin

AU - Ferraro, Nicole M.

AU - Carcamo-Orive, Ivan

AU - Mirauta, Bogdan

AU - Seaton, Daniel D.

AU - Cai, Na

AU - Vakili, Dara

AU - Horta, Danilo

AU - Zhao, Chunli

AU - Zastrow, Diane B.

AU - Bonner, Devon E.

AU - Brown, Christopher D.

AU - Park, Yoson

AU - Wheeler, Matthew T.

AU - Kilpinen, Helena

AU - Knowles, Joshua W.

AU - Smith, Erin N.

AU - Frazer, Kelly A.

AU - Montgomery, Stephen B.

AU - Stegle, Oliver

PY - 2021/3/4

Y1 - 2021/3/4

KW - GENE-EXPRESSION

KW - FUNCTIONAL VARIATION

KW - SUSCEPTIBILITY LOCI

KW - REVEALS

KW - METAANALYSIS

KW - ASSOCIATION

KW - PROVIDES

KW - BURDEN

KW - IMPACT

KW - GWAS

KW - 1184 Genetics, developmental biology, physiology

U2 - 10.1038/s41588-021-00800-7

DO - 10.1038/s41588-021-00800-7

M3 - Article

SN - 1061-4036

VL - 53

SP - 313

EP - 321

JO - Nature Genetics

JF - Nature Genetics

IS - 3

ER -