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

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...

Full description

Saved in:

Bibliographic Details
Published in:	Nature genetics Vol. 53; no. 3; pp. 313 - 321
Main Authors:	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
Format:	Journal Article
Language:	English
Published:	New York Nature Publishing Group US 01.03.2021 Nature Publishing Group
Subjects:	38/39 38/91 45/100 631/208/191/2018 631/208/200 631/532 Agriculture Animal Genetics and Genomics Bardet-Biedl Syndrome - genetics Biomedical and Life Sciences Biomedicine Calcium Channels - genetics Cancer Research Cell Line Cerebellar Ataxia - genetics Disease DNA Methylation Gene Expression Gene Function Genetic aspects Genetic diversity Genetic regulation Genetic research Genetic variance Genetic Variation Genomes Genotype & phenotype Human Genetics Humans Induced Pluripotent Stem Cells - cytology Induced Pluripotent Stem Cells - physiology Pluripotency Polymorphism, Single Nucleotide Proteins - genetics Quantitative Trait Loci Rare diseases Rare Diseases - genetics Regulatory Sequences, Nucleic Acid Sequence Analysis, RNA Stem cells Whole Genome Sequencing United Kingdom
ISSN:	1061-4036, 1546-1718, 1546-1718
Online Access:	Get full text
Tags:	Add Tag No Tags, Be the first to tag this record!

Abstract	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. Integrative data analysis of 1,367 human iPSC lines maps common and rare regulatory variants that colocalize with loci associated with human traits and diseases.
AbstractList	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.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. 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. 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 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 novel 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. 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. Integrative data analysis of 1,367 human iPSC lines maps common and rare regulatory variants that colocalize with loci associated with human traits and 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. Integrative data analysis of 1,367 human iPSC lines maps common and rare regulatory variants that colocalize with loci associated with human traits and diseases.
Audience	Academic
Author	Jakubosky, David Bonner, Devon E. Mirauta, Bogdan Smith, Erin N. Gloudemans, Michael J. Seaton, Daniel D. Stegle, Oliver Li, Xin Ferraro, Nicole M. Cai, Na Wheeler, Matthew T. Frésard, Laure Zastrow, Diane B. Bonder, Marc Jan D’Antonio, Matteo Carcamo-Orive, Ivan Kilpinen, Helena Montgomery, Stephen B. Zhao, Chunli Vakili, Dara Horta, Danilo Frazer, Kelly A. Smail, Craig Knowles, Joshua W.
AuthorAffiliation	1 European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, CB10 1SD Cambridge, UK 5 Genomic Medicine Center, Children’s Mercy Research Institute and Children’s Mercy Kansas City, Kansas City, MO 64108, USA 17 Faculty of Biological and Environmental Sciences, University of Helsinki, Helsinki, Finland 9 Department of Pediatrics and Rady Children’s Hospital, University of California, San Diego, La Jolla, CA 92093, USA 11 Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA 12 Wellcome Sanger Institute, Wellcome Trust Genome Campus, CB10 1SA Cambridge, UK 15 Faculty of Medicine, Imperial College London, London, UK 16 Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA 19 Institute for Genomic Medicine, University of California, San Diego, La Jolla, CA 92093 USA 20 Department of Genetics, Stanford University School of Medicine, Stanford, CA, 94305, USA 7 Biomedical Science
AuthorAffiliation_xml	– name: 4 Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA 94305, USA – name: 7 Biomedical Sciences Graduate Program, University of California, San Diego, La Jolla, CA 92093, USA – name: 19 Institute for Genomic Medicine, University of California, San Diego, La Jolla, CA 92093 USA – name: 18 Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Finland – name: 16 Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA – name: 13 Helmholtz Pioneer Campus, Helmholtz Zentrum München, Ingolstaedter Landstraße 1, D-85764 Neuherberg, Germany – name: 17 Faculty of Biological and Environmental Sciences, University of Helsinki, Helsinki, Finland – name: 14 UCL Great Ormond Street Institute of Child Health, University College London, UK – name: 11 Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA – name: 20 Department of Genetics, Stanford University School of Medicine, Stanford, CA, 94305, USA – name: 12 Wellcome Sanger Institute, Wellcome Trust Genome Campus, CB10 1SA Cambridge, UK – name: 6 Department of Pathology, Stanford University School of Medicine, Stanford, CA 94305, USA – name: 5 Genomic Medicine Center, Children’s Mercy Research Institute and Children’s Mercy Kansas City, Kansas City, MO 64108, USA – name: 10 CAS Key Laboratory of Computational Biology, CAS-MPG Partner Institute for Computational Biology, Shanghai Institute of Nutrition and Health, Chinese Academy of Sciences, Shanghai, 200031, China – name: 9 Department of Pediatrics and Rady Children’s Hospital, University of California, San Diego, La Jolla, CA 92093, USA – name: 8 Department of Biomedical Informatics, University of California, San Diego, La Jolla, CA 92093, USA – name: 2 European Molecular Biology Laboratory, Genome Biology Unit, 69117 Heidelberg, Germany – name: 1 European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, CB10 1SD Cambridge, UK – name: 3 Division of Computational Genomics and Systems Genetics, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany – name: 15 Faculty of Medicine, Imperial College London, London, UK
Author_xml	– sequence: 1 givenname: Marc Jan orcidid: 0000-0002-8431-3180 surname: Bonder fullname: Bonder, Marc Jan email: bondermj@gmail.com organization: European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, European Molecular Biology Laboratory, Genome Biology Unit, Division of Computational Genomics and Systems Genetics, German Cancer Research Center (DKFZ) – sequence: 2 givenname: Craig orcidid: 0000-0001-8045-6021 surname: Smail fullname: Smail, Craig email: csmail@stanford.edu organization: Department of Biomedical Data Science, Stanford University School of Medicine, Genomic Medicine Center, Children’s Mercy Research Institute and Children’s Mercy Kansas City – sequence: 3 givenname: Michael J. orcidid: 0000-0002-9924-9943 surname: Gloudemans fullname: Gloudemans, Michael J. organization: Department of Biomedical Data Science, Stanford University School of Medicine – sequence: 4 givenname: Laure surname: Frésard fullname: Frésard, Laure organization: Department of Pathology, Stanford University School of Medicine – sequence: 5 givenname: David surname: Jakubosky fullname: Jakubosky, David organization: Biomedical Sciences Graduate Program, University of California, San Diego, Department of Biomedical Informatics, University of California, San Diego – sequence: 6 givenname: Matteo orcidid: 0000-0001-5844-6433 surname: D’Antonio fullname: D’Antonio, Matteo organization: Department of Pediatrics and Rady Children’s Hospital, University of California, San Diego – sequence: 7 givenname: Xin surname: Li fullname: Li, Xin organization: CAS Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences – sequence: 8 givenname: Nicole M. surname: Ferraro fullname: Ferraro, Nicole M. organization: Department of Biomedical Data Science, Stanford University School of Medicine – sequence: 9 givenname: Ivan orcidid: 0000-0001-8823-4925 surname: Carcamo-Orive fullname: Carcamo-Orive, Ivan organization: Division of Cardiovascular Medicine, Stanford University School of Medicine – sequence: 10 givenname: Bogdan surname: Mirauta fullname: Mirauta, Bogdan organization: European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus – sequence: 11 givenname: Daniel D. orcidid: 0000-0002-5222-3893 surname: Seaton fullname: Seaton, Daniel D. organization: European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus – sequence: 12 givenname: Na surname: Cai fullname: Cai, Na organization: European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Wellcome Sanger Institute, Wellcome Trust Genome Campus, Helmholtz Pioneer Campus, Helmholtz Zentrum München – sequence: 13 givenname: Dara orcidid: 0000-0001-8251-0589 surname: Vakili fullname: Vakili, Dara organization: UCL Great Ormond Street Institute of Child Health, University College London, Faculty of Medicine, Imperial College London – sequence: 14 givenname: Danilo orcidid: 0000-0003-4832-2124 surname: Horta fullname: Horta, Danilo organization: European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus – sequence: 15 givenname: Chunli surname: Zhao fullname: Zhao, Chunli organization: Stanford Center for Undiagnosed Diseases, Stanford University – sequence: 16 givenname: Diane B. surname: Zastrow fullname: Zastrow, Diane B. organization: Stanford Center for Undiagnosed Diseases, Stanford University – sequence: 17 givenname: Devon E. surname: Bonner fullname: Bonner, Devon E. organization: Stanford Center for Undiagnosed Diseases, Stanford University – sequence: 22 givenname: Matthew T. orcidid: 0000-0001-8721-3022 surname: Wheeler fullname: Wheeler, Matthew T. organization: Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford Center for Undiagnosed Diseases, Stanford University – sequence: 23 givenname: Helena surname: Kilpinen fullname: Kilpinen, Helena organization: Wellcome Sanger Institute, Wellcome Trust Genome Campus, UCL Great Ormond Street Institute of Child Health, University College London, Faculty of Biological and Environmental Sciences, University of Helsinki, Helsinki Institute of Life Science (HiLIFE), University of Helsinki – sequence: 24 givenname: Joshua W. orcidid: 0000-0003-1922-7240 surname: Knowles fullname: Knowles, Joshua W. organization: Division of Cardiovascular Medicine, Stanford University School of Medicine – sequence: 25 givenname: Erin N. surname: Smith fullname: Smith, Erin N. organization: Institute for Genomic Medicine, University of California, San Diego – sequence: 26 givenname: Kelly A. orcidid: 0000-0002-6060-8902 surname: Frazer fullname: Frazer, Kelly A. organization: Department of Pediatrics and Rady Children’s Hospital, University of California, San Diego, Institute for Genomic Medicine, University of California, San Diego – sequence: 27 givenname: Stephen B. orcidid: 0000-0002-5200-3903 surname: Montgomery fullname: Montgomery, Stephen B. email: smontgom@stanford.edu organization: Department of Pathology, Stanford University School of Medicine, Department of Genetics, Stanford University School of Medicine – sequence: 28 givenname: Oliver orcidid: 0000-0002-8818-7193 surname: Stegle fullname: Stegle, Oliver email: oliver.stegle@embl.de organization: European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, European Molecular Biology Laboratory, Genome Biology Unit, Division of Computational Genomics and Systems Genetics, German Cancer Research Center (DKFZ), Wellcome Sanger Institute, Wellcome Trust Genome Campus
BackLink	https://www.ncbi.nlm.nih.gov/pubmed/33664507$$D View this record in MEDLINE/PubMed
BookMark	eNqNkt1r1jAYxYtM3If-A15IwBu96EzaNElvhDH8eGEw0OFtSNOkZrRJl6TD_fc-3Ts33yFDetHy9HdO8hzOYbHngzdF8ZrgY4Jr8SFR0ghR4oqUGAuMS_6sOCANZSXhROzBN2akpLhm-8VhSpcYE0qxeFHs1zVjtMH8oLja9MZnZ51W2QWPgkVRRYOU75EO0wSjaIZlVDnEG3StolM-J-Q8msclujlkkCNtxjGhJTk_oDnMKw5mZdJqNChH5ZMGNofJ6fSyeG7VmMyru_dRcfH508Xp1_Ls_Mvm9OSs1Iw3udSY11RRjWlrYUKstRVhfdfVnWJd01W9UtxyrgRVrLUW17qzQjCBWa-wqI-Kj1vbeekm02u4ZlSjnKObVLyRQTm5-8e7n3II15K3lDK6Gry7M4jhajEpy8mldVHlTViSrGgraMsgUUDfPkIvwxI9bCcrSLlhBMJ-oAZIRTpvA5yrV1N5wpqGE96SGqjjf1Dw9AbSgwJYB_MdwfsdATDZ_MqDWlKSm-_f_p89_7HLvvk7wPvk_nQHgGoL6BhSisbeIwTLtaByW1AJBZW3BZWrSDwSaZdv2wJruvFpab2VJjjHDyY-pPyE6jfgc_p-
CitedBy_id	crossref_primary_10_1002_humu_24466 crossref_primary_10_7554_eLife_74970 crossref_primary_10_3389_fendo_2021_737276 crossref_primary_10_1016_j_psychres_2024_116033 crossref_primary_10_1038_s41588_022_01248_z crossref_primary_10_1038_s41467_025_56569_4 crossref_primary_10_1016_j_nsa_2023_101125 crossref_primary_10_1111_febs_15885 crossref_primary_10_1186_s13059_023_02873_5 crossref_primary_10_3390_epigenomes6030021 crossref_primary_10_1016_j_chom_2025_08_004 crossref_primary_10_1038_s41588_023_01343_9 crossref_primary_10_1038_s41576_021_00357_5 crossref_primary_10_1016_j_xgen_2025_100775 crossref_primary_10_1038_s41467_023_36638_2 crossref_primary_10_7554_eLife_67077 crossref_primary_10_1146_annurev_genom_021623_121812 crossref_primary_10_1002_jimd_12663 crossref_primary_10_1016_j_ajhg_2022_04_015 crossref_primary_10_1016_j_biopsych_2021_04_008 crossref_primary_10_1146_annurev_genet_072920_032107 crossref_primary_10_1016_j_xhgg_2025_100463 crossref_primary_10_1097_MOH_0000000000000732 crossref_primary_10_1186_s13073_022_01026_w crossref_primary_10_1093_bib_bbad284 crossref_primary_10_1038_s41588_021_00801_6 crossref_primary_10_1186_s13059_023_03151_0 crossref_primary_10_1186_s13073_022_01019_9 crossref_primary_10_1038_s41467_025_58310_7 crossref_primary_10_1002_humu_24416 crossref_primary_10_1016_j_ebiom_2024_105476 crossref_primary_10_1016_j_ajhg_2021_07_011 crossref_primary_10_1038_s41588_022_01075_2 crossref_primary_10_1186_s13059_021_02407_x crossref_primary_10_3390_ijms23031441 crossref_primary_10_1038_s41576_023_00599_5
Cites_doi	10.1038/ng.2756 10.1038/s41586-019-1406-x 10.1038/ng.3721 10.1016/j.ajhg.2014.08.004 10.1038/s41467-020-16481-5 10.1038/nature09270 10.1016/j.stem.2017.03.009 10.1038/s41588-018-0268-8 10.1038/s41588-018-0046-7 10.1038/ng.3874 10.1093/nar/gkq929 10.1038/nature24277 10.1093/nar/gky1120 10.1016/j.stem.2016.11.005 10.1016/j.ajhg.2016.10.003 10.1093/bioinformatics/btw018 10.1093/hmg/ddy271 10.1002/ana.22687 10.1016/j.stem.2012.10.010 10.1038/ng.2395 10.1038/nrg3764 10.1016/j.stemcr.2017.03.012 10.1016/j.celrep.2018.06.091 10.1038/s41588-017-0005-8 10.1161/CIRCRESAHA.117.312086 10.1073/pnas.1530509100 10.1038/nature24267 10.7554/eLife.15657 10.1126/scitranslmed.3003552 10.1038/nprot.2011.457 10.1371/journal.pgen.1005216 10.1038/nbt.3388 10.1038/s41588-019-0404-0 10.1038/nature22403 10.1038/s41591-019-0457-8 10.1002/humu.23211 10.1038/s41467-020-14561-0 10.1086/519795 10.1038/s41436-019-0669-9 10.1093/bioinformatics/btp352 10.1038/nature15393 10.1038/nmeth.3439 10.1038/nature12531 10.1093/eurheartj/ehz326 10.2337/db16-1253 10.1186/s13059-016-0973-5 10.1038/s41431-018-0169-4 10.1093/nar/gkw928 10.1038/ncb3411 10.1016/j.ajhg.2015.12.023 10.1016/j.stem.2017.03.017 10.1101/gr.224436.117 10.1186/s13073-015-0228-1 10.1038/ncomms15824 10.1016/j.jaut.2015.07.004 10.1093/nar/gky1016 10.1038/s41467-020-14457-z 10.12688/f1000research.17145.1 10.1038/ng.3737 10.1038/nbt.2005 10.1093/bioinformatics/btv722 10.1038/ng.2802 10.1038/s41588-021-00801-6 10.1093/bioinformatics/btz469 10.56021/9780801857423 10.1126/science.aaz5900
ContentType	Journal Article
Contributor	Jakubosky, David A Brown, Christopher D Park, YoSon Jan Bonder, Marc Seaton, Daniel
Contributor_xml	– sequence: 1 givenname: Marc surname: Jan Bonder fullname: Jan Bonder, Marc – sequence: 2 givenname: Daniel surname: Seaton fullname: Seaton, Daniel – sequence: 3 givenname: David A surname: Jakubosky fullname: Jakubosky, David A – sequence: 4 givenname: Christopher D surname: Brown fullname: Brown, Christopher D – sequence: 5 givenname: YoSon surname: Park fullname: Park, YoSon
Copyright	The Author(s), under exclusive licence to Springer Nature America, Inc. 2021 COPYRIGHT 2021 Nature Publishing Group Copyright Nature Publishing Group Mar 2021
Copyright_xml	– notice: The Author(s), under exclusive licence to Springer Nature America, Inc. 2021 – notice: COPYRIGHT 2021 Nature Publishing Group – notice: Copyright Nature Publishing Group Mar 2021
CorporateAuthor	PhLiPS consortium Undiagnosed Diseases Network iPSCORE consortium HipSci Consortium
CorporateAuthor_xml	– name: iPSCORE consortium – name: PhLiPS consortium – name: Undiagnosed Diseases Network – name: HipSci Consortium
DBID	AAYXX CITATION CGR CUY CVF ECM EIF NPM IOV ISR 3V. 7QL 7QP 7QR 7SS 7T7 7TK 7TM 7U9 7X7 7XB 88A 88E 8AO 8C1 8FD 8FE 8FH 8FI 8FJ 8FK 8G5 ABUWG AEUYN AFKRA AZQEC BBNVY BENPR BHPHI C1K CCPQU DWQXO FR3 FYUFA GHDGH GNUQQ GUQSH H94 HCIFZ K9. LK8 M0S M1P M2O M7N M7P MBDVC P64 PHGZM PHGZT PJZUB PKEHL PPXIY PQEST PQGLB PQQKQ PQUKI PRINS Q9U RC3 7X8 5PM
DOI	10.1038/s41588-021-00800-7
DatabaseName	CrossRef Medline MEDLINE MEDLINE (Ovid) MEDLINE MEDLINE PubMed Gale In Context: Opposing Viewpoints Gale In Context: Science ProQuest Central (Corporate) Bacteriology Abstracts (Microbiology B) Calcium & Calcified Tissue Abstracts Chemoreception Abstracts Entomology Abstracts (Full archive) Industrial and Applied Microbiology Abstracts (Microbiology A) Neurosciences Abstracts Nucleic Acids Abstracts Virology and AIDS Abstracts Health & Medical Collection ProQuest Central (purchase pre-March 2016) Biology Database (Alumni Edition) Medical Database (Alumni Edition) ProQuest Pharma Collection Public Health Database Technology Research Database ProQuest SciTech Collection ProQuest Natural Science Collection Hospital Premium Collection Hospital Premium Collection (Alumni Edition) ProQuest Central (Alumni) (purchase pre-March 2016) Research Library (Alumni) ProQuest Central (Alumni) ProQuest One Sustainability ProQuest Central UK/Ireland ProQuest Central Essentials - QC Biological Science Collection ProQuest Central Natural Science Collection Environmental Sciences and Pollution Management ProQuest One ProQuest Central Korea Engineering Research Database ProQuest Health & Medical Collection Health Research Premium Collection (Alumni) ProQuest Central Student ProQuest Research Library AIDS and Cancer Research Abstracts SciTech Premium Collection ProQuest Health & Medical Complete (Alumni) Biological Sciences ProQuest Health & Medical Collection Medical Database ProQuest Research Library Algology Mycology and Protozoology Abstracts (Microbiology C) Biological Science Database Research Library (Corporate) Biotechnology and BioEngineering Abstracts Proquest Central Premium ProQuest One Academic (New) ProQuest Health & Medical Research Collection ProQuest One Academic Middle East (New) ProQuest One Health & Nursing ProQuest One Academic Eastern Edition (DO NOT USE) ProQuest One Applied & Life Sciences ProQuest One Academic (retired) ProQuest One Academic UKI Edition ProQuest Central China ProQuest Central Basic Genetics Abstracts MEDLINE - Academic PubMed Central (Full Participant titles)
DatabaseTitle	CrossRef MEDLINE Medline Complete MEDLINE with Full Text PubMed MEDLINE (Ovid) Research Library Prep ProQuest Central Student ProQuest Central Essentials Nucleic Acids Abstracts SciTech Premium Collection ProQuest Central China Environmental Sciences and Pollution Management ProQuest One Applied & Life Sciences ProQuest One Sustainability Health Research Premium Collection Natural Science Collection Health & Medical Research Collection Biological Science Collection Chemoreception Abstracts Industrial and Applied Microbiology Abstracts (Microbiology A) ProQuest Central (New) ProQuest Medical Library (Alumni) Virology and AIDS Abstracts ProQuest Biological Science Collection ProQuest One Academic Eastern Edition ProQuest Hospital Collection Health Research Premium Collection (Alumni) Biological Science Database Neurosciences Abstracts ProQuest Hospital Collection (Alumni) Biotechnology and BioEngineering Abstracts Entomology Abstracts ProQuest Health & Medical Complete ProQuest One Academic UKI Edition Engineering Research Database ProQuest One Academic Calcium & Calcified Tissue Abstracts ProQuest One Academic (New) Technology Research Database ProQuest One Academic Middle East (New) ProQuest Health & Medical Complete (Alumni) ProQuest Central (Alumni Edition) ProQuest One Community College ProQuest One Health & Nursing Research Library (Alumni Edition) ProQuest Natural Science Collection ProQuest Pharma Collection ProQuest Biology Journals (Alumni Edition) ProQuest Central ProQuest Health & Medical Research Collection Genetics Abstracts Health and Medicine Complete (Alumni Edition) ProQuest Central Korea Bacteriology Abstracts (Microbiology B) Algology Mycology and Protozoology Abstracts (Microbiology C) AIDS and Cancer Research Abstracts ProQuest Research Library ProQuest Public Health ProQuest Central Basic ProQuest SciTech Collection ProQuest Medical Library ProQuest Central (Alumni) MEDLINE - Academic
DatabaseTitleList	MEDLINE - Academic Research Library Prep MEDLINE
Database_xml	– sequence: 1 dbid: NPM name: PubMed url: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed sourceTypes: Index Database – sequence: 2 dbid: BENPR name: ProQuest Central url: https://www.proquest.com/central sourceTypes: Aggregation Database
DeliveryMethod	fulltext_linktorsrc
Discipline	Agriculture Biology
EISSN	1546-1718
EndPage	321
ExternalDocumentID	PMC7944648 A655717913 33664507 10_1038_s41588_021_00800_7
Genre	Research Support, U.S. Gov't, Non-P.H.S Research Support, Non-U.S. Gov't Journal Article Research Support, N.I.H., Extramural
GeographicLocations	United Kingdom
GeographicLocations_xml	– name: United Kingdom
GrantInformation_xml	– fundername: Please see manuscript (Acknowledgments) – fundername: NIDDK NIH HHS grantid: R01 DK107437 – fundername: Wellcome Trust grantid: WT090851 – fundername: NHLBI NIH HHS grantid: U01 HL107388 – fundername: Wellcome Trust – fundername: Medical Research Council – fundername: NIDDK NIH HHS grantid: P30 DK116074 – fundername: NHGRI NIH HHS grantid: U01 HG009080 – fundername: NHGRI NIH HHS grantid: U01 HG007708 – fundername: NLM NIH HHS grantid: T32 LM012409 – fundername: NIA NIH HHS grantid: R01 AG066490
GroupedDBID	--- -DZ -~X .55 .GJ 0R~ 123 29M 2FS 36B 39C 3O- 3V. 4.4 53G 5BI 5M7 5RE 5S5 70F 7X7 85S 88A 88E 8AO 8C1 8FE 8FH 8FI 8FJ 8G5 8R4 8R5 AAEEF AAHBH AARCD AAYOK AAYZH AAZLF ABAWZ ABCQX ABDBF ABDPE ABEFU ABJNI ABLJU ABOCM ABTAH ABUWG ACBWK ACGFO ACGFS ACIWK ACMJI ACNCT ACPRK ACUHS ADBBV ADFRT AENEX AEUYN AFBBN AFFNX AFKRA AFRAH AFSHS AGAYW AGCDD AGHTU AHBCP AHMBA AHOSX AHSBF AIBTJ ALFFA ALIPV ALMA_UNASSIGNED_HOLDINGS AMTXH ARMCB ASPBG AVWKF AXYYD AZFZN AZQEC B0M BBNVY BENPR BHPHI BKKNO BPHCQ BVXVI CCPQU CS3 DB5 DU5 DWQXO EAD EAP EBC EBD EBS EE. EJD EMB EMK EMOBN EPL ESX EXGXG F5P FEDTE FQGFK FSGXE FYUFA GNUQQ GUQSH GX1 HCIFZ HMCUK HVGLF HZ~ IAO IH2 IHR INH INR IOV ISR ITC L7B LGEZI LK8 LOTEE M0L M1P M2O M7P MVM N9A NADUK NNMJJ NXXTH ODYON P2P PKN PQQKQ PROAC PSQYO Q2X RIG RNS RNT RNTTT RVV SHXYY SIXXV SJN SNYQT SOJ SV3 TAOOD TBHMF TDRGL TN5 TSG TUS UKHRP VQA X7M XJT XOL Y6R YHZ ZGI ZXP ZY4 ~8M ~KM AAYXX ABFSG ACSTC AETEA AEZWR AFANA AFFHD AFHIU AGSTI AHWEU AIEIU AIXLP ALPWD ATHPR CITATION PHGZM PHGZT PJZUB PPXIY PQGLB CGR CUY CVF ECM EIF NFIDA NPM 7QL 7QP 7QR 7SS 7T7 7TK 7TM 7U9 7XB 8FD 8FK C1K FR3 H94 K9. M7N MBDVC P64 PKEHL PQEST PQUKI PRINS Q9U RC3 7X8 PUEGO 5PM
ID	FETCH-LOGICAL-c675t-c0734a4c049fc671fff216dbb3ba6b5b2daa7f77a84a69ff03cbf886806da083
IEDL.DBID	M7P
ISICitedReferencesCount	42
ISICitedReferencesURI	http://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=Summon&SrcAuth=ProQuest&DestLinkType=CitingArticles&DestApp=WOS_CPL&KeyUT=000625825000002&url=https%3A%2F%2Fcvtisr.summon.serialssolutions.com%2F%23%21%2Fsearch%3Fho%3Df%26include.ft.matches%3Dt%26l%3Dnull%26q%3D
ISSN	1061-4036 1546-1718
IngestDate	Tue Nov 04 02:02:26 EST 2025 Wed Oct 01 13:42:05 EDT 2025 Mon Oct 06 17:25:39 EDT 2025 Sat Nov 29 13:33:16 EST 2025 Sat Nov 29 10:16:00 EST 2025 Wed Nov 26 09:43:35 EST 2025 Wed Nov 26 10:02:08 EST 2025 Mon Jul 21 04:15:31 EDT 2025 Tue Nov 18 21:58:38 EST 2025 Sat Nov 29 03:07:11 EST 2025 Fri Feb 21 02:39:07 EST 2025
IsDoiOpenAccess	true
IsOpenAccess	true
IsPeerReviewed	true
IsScholarly	true
Issue	3
Language	English
License	Users may view, print, copy, and download text and data-mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use:http://www.nature.com/authors/editorial_policies/license.html#terms
LinkModel	DirectLink
MergedId	FETCHMERGED-LOGICAL-c675t-c0734a4c049fc671fff216dbb3ba6b5b2daa7f77a84a69ff03cbf886806da083
Notes	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 content type line 23 Shared first authors, contributed equally to this work Shared last authors, contributed equally to this work The main analyses and data preparations were performed by M.J.B. and C.S.; D.J. and M.D. performed structural variant calling and analysis; N.M.F. performed GTEx v7 data processing; L.F. and X.L. performed rare variant annotation and interpretation; H.K. and D.V. annotated and validated the rare disease variants and genes for the HipSci rare disease samples; M.J.G. performed the colocalization analysis; M.J.B., D.S., B.M. and D.H. developed the eQTL software; C.Z. generated iPSC lines for UDN rare disease samples; N.C., I.C.-O., Y.P. assisted with data processing and analysis; M.J.B., C.S., M.J.G., S.B.M., O.S. wrote the manuscript; I.C.-O., N.C., N.M.F., K.A.F., L.F., M.J.G., D.J., M.T.W., D.B.Z., B.M. assisted in editing the manuscript; M.J.B., C.S., E.S., K.A.F., O.S., S.B.M. conceived and oversaw the study. Author contributions
ORCID	0000-0002-6060-8902 0000-0001-5844-6433 0000-0003-4832-2124 0000-0001-8823-4925 0000-0002-5222-3893 0000-0001-8721-3022 0000-0002-8431-3180 0000-0002-8818-7193 0000-0001-8045-6021 0000-0002-9924-9943 0000-0003-1922-7240 0000-0002-5200-3903 0000-0001-8251-0589
OpenAccessLink	https://pubmed.ncbi.nlm.nih.gov/PMC7944648
PMID	33664507
PQID	2507561450
PQPubID	33429
PageCount	9
ParticipantIDs	pubmedcentral_primary_oai_pubmedcentral_nih_gov_7944648 proquest_miscellaneous_2498496440 proquest_journals_2507561450 gale_infotracmisc_A655717913 gale_infotracacademiconefile_A655717913 gale_incontextgauss_ISR_A655717913 gale_incontextgauss_IOV_A655717913 pubmed_primary_33664507 crossref_primary_10_1038_s41588_021_00800_7 crossref_citationtrail_10_1038_s41588_021_00800_7 springer_journals_10_1038_s41588_021_00800_7
PublicationCentury	2000
PublicationDate	2021-03-01
PublicationDateYYYYMMDD	2021-03-01
PublicationDate_xml	– month: 03 year: 2021 text: 2021-03-01 day: 01
PublicationDecade	2020
PublicationPlace	New York
PublicationPlace_xml	– name: New York – name: United States
PublicationTitle	Nature genetics
PublicationTitleAbbrev	Nat Genet
PublicationTitleAlternate	Nat Genet
PublicationYear	2021
Publisher	Nature Publishing Group US Nature Publishing Group
Publisher_xml	– name: Nature Publishing Group US – name: Nature Publishing Group
References	Pashos (CR19) 2017; 20 Liu, Gloudemans, Rao, Ingelsson, Montgomery (CR43) 2019; 51 CR39 Pankratz (CR51) 2012; 71 Lan (CR11) 2013; 12 Carcamo-Orive (CR21) 2017; 20 Streeter (CR56) 2017; 45 CR36 Li (CR68) 2009; 1000 Li (CR33) 2014; 95 CR35 Purcell (CR61) 2007; 81 Gerrard (CR28) 2016; 5 Yengo (CR48) 2018; 27 Lambert (CR52) 2013; 45 Storey, Tibshirani (CR63) 2003; 100 Li (CR23) 2017; 550 Alasoo (CR6) 2018; 50 Forbes (CR27) 2010; 39 Hall (CR66) 2018; 26 Urbut, Wang, Carbonetto, Stephens (CR29) 2019; 51 Scott (CR53) 2017; 66 Buniello (CR30) 2019; 47 Sun (CR10) 2012; 4 Pedersen, Layer, Quinlan (CR65) 2016; 17 Kilpinen (CR17) 2017; 546 CR9 Casale, Rakitsch, Lippert, Stegle (CR60) 2015; 12 CR42 Kremer (CR37) 2017; 8 Rentzsch, Witten, Cooper, Shendure, Kircher (CR67) 2019; 47 D’Antonio (CR57) 2018; 24 Saha, Battle (CR64) 2018; 7 Schwartzentruber (CR7) 2018; 50 Panopoulos (CR18) 2017; 8 Teslovich (CR46) 2010; 466 Thomas (CR25) 2015; 11 Donovan, D’Antonio-Chronowska, D’Antonio, Frazer (CR26) 2020; 11 Stegle, Parts, Piipari, Winn, Durbin (CR34) 2012; 7 Jakubosky (CR31) 2020; 11 CR59 Benner (CR40) 2016; 32 Wu (CR14) 2019; 40 Lee (CR12) 2019; 572 Hormozdiari (CR41) 2016; 99 Zhernakova (CR3) 2017; 49 Frésard (CR22) 2019; 25 Cuomo (CR8) 2020; 11 Liu (CR45) 2012; 44 Kodo (CR13) 2016; 18 Howson (CR50) 2017; 49 Pongor (CR47) 2015; 7 Kernohan (CR38) 2017; 38 Webb, Siminovitch, Hirschfield (CR54) 2015; 64 Lappalainen (CR5) 2013; 501 CR69 Dubois (CR15) 2011; 29 DeBoever (CR58) 2017; 20 (CR4) 2017; 550 Sanchez (CR49) 2020; 22 Ongen, Buil, Brown, Dermitzakis, Delaneau (CR62) 2016; 32 Banovich (CR20) 2018; 28 Westra (CR1) 2013; 45 Zhao (CR32) 2016; 98 (CR55) 2015; 526 Sterneckert, Reinhardt, Schöler (CR16) 2014; 15 Bonder (CR2) 2017; 49 Choi (CR24) 2015; 33 van der Harst, Verweij (CR44) 2018; 122 EE Pashos (800_CR19) 2017; 20 MKR Donovan (800_CR26) 2020; 11 ASE Cuomo (800_CR8) 2020; 11 JZ Liu (800_CR45) 2012; 44 DT Gerrard (800_CR28) 2016; 5 J Zhao (800_CR32) 2016; 98 M D’Antonio (800_CR57) 2018; 24 TM Teslovich (800_CR46) 2010; 466 FP Casale (800_CR60) 2015; 12 F Lan (800_CR11) 2013; 12 A Saha (800_CR64) 2018; 7 F Hormozdiari (800_CR41) 2016; 99 800_CR39 800_CR36 JMM Howson (800_CR50) 2017; 49 800_CR35 JL Sterneckert (800_CR16) 2014; 15 O Stegle (800_CR34) 2012; 7 RA Scott (800_CR53) 2017; 66 LS Kremer (800_CR37) 2017; 8 L Yengo (800_CR48) 2018; 27 H Li (800_CR68) 2009; 1000 GJ Webb (800_CR54) 2015; 64 MJ Bonder (800_CR2) 2017; 49 J Lee (800_CR12) 2019; 572 SA Forbes (800_CR27) 2010; 39 GTEx Consortium. (800_CR4) 2017; 550 JD Storey (800_CR63) 2003; 100 L Frésard (800_CR22) 2019; 25 SM Urbut (800_CR29) 2019; 51 X Li (800_CR33) 2014; 95 K Kodo (800_CR13) 2016; 18 1000 Genomes Project Consortium (800_CR55) 2015; 526 800_CR9 800_CR69 P Rentzsch (800_CR67) 2019; 47 T Lappalainen (800_CR5) 2013; 501 X Li (800_CR23) 2017; 550 SM Thomas (800_CR25) 2015; 11 J Schwartzentruber (800_CR7) 2018; 50 H Wu (800_CR14) 2019; 40 I Carcamo-Orive (800_CR21) 2017; 20 NC Dubois (800_CR15) 2011; 29 H Ongen (800_CR62) 2016; 32 D Jakubosky (800_CR31) 2020; 11 KD Kernohan (800_CR38) 2017; 38 JC Lambert (800_CR52) 2013; 45 C DeBoever (800_CR58) 2017; 20 CL Hall (800_CR66) 2018; 26 C Benner (800_CR40) 2016; 32 L Pongor (800_CR47) 2015; 7 S Purcell (800_CR61) 2007; 81 K Alasoo (800_CR6) 2018; 50 B Liu (800_CR43) 2019; 51 800_CR59 E Sanchez (800_CR49) 2020; 22 H-J Westra (800_CR1) 2013; 45 H Kilpinen (800_CR17) 2017; 546 BS Pedersen (800_CR65) 2016; 17 AD Panopoulos (800_CR18) 2017; 8 NE Banovich (800_CR20) 2018; 28 N Sun (800_CR10) 2012; 4 A Buniello (800_CR30) 2019; 47 DV Zhernakova (800_CR3) 2017; 49 I Streeter (800_CR56) 2017; 45 P van der Harst (800_CR44) 2018; 122 N Pankratz (800_CR51) 2012; 71 J Choi (800_CR24) 2015; 33 800_CR42 33785895 - Nat Rev Genet. 2021 May;22(5):265
References_xml	– volume: 45 start-page: 1238 year: 2013 end-page: 1243 ident: CR1 article-title: Systematic identification of -eQTLs as putative drivers of known disease associations publication-title: Nat. Genet. doi: 10.1038/ng.2756 – volume: 572 start-page: 335 year: 2019 end-page: 340 ident: CR12 article-title: Activation of PDGF pathway links mutation to dilated cardiomyopathy publication-title: Nature doi: 10.1038/s41586-019-1406-x – volume: 49 start-page: 131 year: 2017 end-page: 138 ident: CR2 article-title: Disease variants alter transcription factor levels and methylation of their binding sites publication-title: Nat. Genet. doi: 10.1038/ng.3721 – volume: 95 start-page: 245 year: 2014 end-page: 256 ident: CR33 article-title: Transcriptome sequencing of a large human family identifies the impact of rare noncoding variants publication-title: Am. J. Hum. Genet. doi: 10.1016/j.ajhg.2014.08.004 – ident: CR39 – volume: 11 year: 2020 ident: CR31 article-title: Discovery and quality analysis of a comprehensive set of structural variants and short tandem repeats publication-title: Nat. Commun. doi: 10.1038/s41467-020-16481-5 – ident: CR35 – volume: 466 start-page: 707 year: 2010 end-page: 713 ident: CR46 article-title: Biological, clinical and population relevance of 95 loci for blood lipids publication-title: Nature doi: 10.1038/nature09270 – volume: 20 start-page: 533 year: 2017 end-page: 546.e7 ident: CR58 article-title: Large-scale profiling reveals the influence of genetic variation on gene expression in human induced pluripotent stem cells publication-title: Cell Stem Cell doi: 10.1016/j.stem.2017.03.009 – volume: 51 start-page: 187 year: 2019 end-page: 195 ident: CR29 article-title: Flexible statistical methods for estimating and testing effects in genomic studies with multiple conditions publication-title: Nat. Genet. doi: 10.1038/s41588-018-0268-8 – volume: 50 start-page: 424 year: 2018 end-page: 431 ident: CR6 article-title: Shared genetic effects on chromatin and gene expression indicate a role for enhancer priming in immune response publication-title: Nat. Genet. doi: 10.1038/s41588-018-0046-7 – volume: 49 start-page: 1113 year: 2017 end-page: 1119 ident: CR50 article-title: Fifteen new risk loci for coronary artery disease highlight arterial-wall-specific mechanisms publication-title: Nat. Genet. doi: 10.1038/ng.3874 – volume: 39 start-page: D945 year: 2010 end-page: D950 ident: CR27 article-title: COSMIC: mining complete cancer genomes in the catalogue of somatic mutations in cancer publication-title: Nucleic Acids Res. doi: 10.1093/nar/gkq929 – volume: 550 start-page: 204 year: 2017 end-page: 213 ident: CR4 article-title: Genetic effects on gene expression across human tissues publication-title: Nature doi: 10.1038/nature24277 – volume: 47 start-page: D1005 year: 2019 end-page: D1012 ident: CR30 article-title: The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019 publication-title: Nucleic Acids Res. doi: 10.1093/nar/gky1120 – ident: CR42 – volume: 20 start-page: 518 year: 2017 end-page: 532.e9 ident: CR21 article-title: Analysis of transcriptional variability in a large human iPSC library reveals genetic and non-genetic determinants of heterogeneity publication-title: Cell Stem Cell doi: 10.1016/j.stem.2016.11.005 – volume: 99 start-page: 1245 year: 2016 end-page: 1260 ident: CR41 article-title: Colocalization of GWAS and eQTL signals detects target genes publication-title: Am. J. Hum. Genet. doi: 10.1016/j.ajhg.2016.10.003 – volume: 32 start-page: 1493 year: 2016 end-page: 1501 ident: CR40 article-title: FINEMAP: efficient variable selection using summary data from genome-wide association studies publication-title: Bioinformatics doi: 10.1093/bioinformatics/btw018 – volume: 27 start-page: 3641 year: 2018 end-page: 3649 ident: CR48 article-title: Meta-analysis of genome-wide association studies for height and body mass index in ∼700000 individuals of European ancestry publication-title: Hum. Mol. Genet. doi: 10.1093/hmg/ddy271 – volume: 71 start-page: 370 year: 2012 end-page: 384 ident: CR51 article-title: Meta-analysis of Parkinson’s disease: identification of a novel locus, publication-title: Ann. Neurol. doi: 10.1002/ana.22687 – volume: 12 start-page: 101 year: 2013 end-page: 113 ident: CR11 article-title: Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells publication-title: Cell Stem Cell doi: 10.1016/j.stem.2012.10.010 – volume: 44 start-page: 1137 year: 2012 end-page: 1141 ident: CR45 article-title: Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis publication-title: Nat. Genet. doi: 10.1038/ng.2395 – volume: 15 start-page: 625 year: 2014 end-page: 639 ident: CR16 article-title: Investigating human disease using stem cell models publication-title: Nat. Rev. Genet. doi: 10.1038/nrg3764 – volume: 8 start-page: 1086 year: 2017 end-page: 1100 ident: CR18 article-title: iPSCORE: a resource of 222 iPSC lines enabling functional characterization of genetic variation across a variety of cell types publication-title: Stem Cell Rep. doi: 10.1016/j.stemcr.2017.03.012 – volume: 24 start-page: 883 year: 2018 end-page: 894 ident: CR57 article-title: Insights into the mutational burden of human induced pluripotent stem cells from an integrative multi-omics approach publication-title: Cell Rep. doi: 10.1016/j.celrep.2018.06.091 – volume: 50 start-page: 54 year: 2018 end-page: 61 ident: CR7 article-title: Molecular and functional variation in iPSC-derived sensory neurons publication-title: Nat. Genet. doi: 10.1038/s41588-017-0005-8 – volume: 122 start-page: 433 year: 2018 end-page: 443 ident: CR44 article-title: Identification of 64 novel genetic loci provides an expanded view on the genetic architecture of coronary artery disease publication-title: Circ. Res. doi: 10.1161/CIRCRESAHA.117.312086 – volume: 100 start-page: 9440 year: 2003 end-page: 9445 ident: CR63 article-title: Statistical significance for genomewide studies publication-title: Proc. Natl Acad. Sci. USA doi: 10.1073/pnas.1530509100 – volume: 550 start-page: 239 year: 2017 end-page: 243 ident: CR23 article-title: The impact of rare variation on gene expression across tissues publication-title: Nature doi: 10.1038/nature24267 – volume: 5 start-page: e15657 year: 2016 ident: CR28 article-title: An integrative transcriptomic atlas of organogenesis in human embryos publication-title: eLife doi: 10.7554/eLife.15657 – volume: 4 start-page: 130ra47 year: 2012 ident: CR10 article-title: Patient-specific induced pluripotent stem cells as a model for familial dilated cardiomyopathy publication-title: Sci. Transl. Med. doi: 10.1126/scitranslmed.3003552 – ident: CR9 – volume: 7 start-page: 500 year: 2012 end-page: 507 ident: CR34 article-title: Using probabilistic estimation of expression residuals to obtain increased power and interpretability of gene expression analyses publication-title: Nat. Protoc. doi: 10.1038/nprot.2011.457 – ident: CR36 – volume: 11 start-page: e1005216 year: 2015 ident: CR25 article-title: Reprogramming LCLs to iPSCs results in recovery of donor-specific gene expression signature publication-title: PLoS Genet. doi: 10.1371/journal.pgen.1005216 – volume: 33 start-page: 1173 year: 2015 end-page: 1181 ident: CR24 article-title: A comparison of genetically matched cell lines reveals the equivalence of human iPSCs and ESCs publication-title: Nat. Biotechnol. doi: 10.1038/nbt.3388 – volume: 51 start-page: 768 year: 2019 end-page: 769 ident: CR43 article-title: Abundant associations with gene expression complicate GWAS follow-up publication-title: Nat. Genet. doi: 10.1038/s41588-019-0404-0 – volume: 546 start-page: 370 year: 2017 end-page: 375 ident: CR17 article-title: Common genetic variation drives molecular heterogeneity in human iPSCs publication-title: Nature doi: 10.1038/nature22403 – volume: 25 start-page: 911 year: 2019 end-page: 919 ident: CR22 article-title: Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts publication-title: Nat. Med. doi: 10.1038/s41591-019-0457-8 – volume: 38 start-page: 611 year: 2017 end-page: 614 ident: CR38 article-title: Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy publication-title: Hum. Mutat. doi: 10.1002/humu.23211 – volume: 11 year: 2020 ident: CR26 article-title: Cellular deconvolution of GTEx tissues powers eQTL studies to discover thousands of novel disease and cell-type associated regulatory variants publication-title: Nat. Commun. doi: 10.1038/s41467-020-14561-0 – volume: 81 start-page: 559 year: 2007 end-page: 575 ident: CR61 article-title: PLINK: a tool set for whole-genome association and population-based linkage analyses publication-title: Am. J. Hum. Genet. doi: 10.1086/519795 – volume: 22 start-page: 547 year: 2020 end-page: 556 ident: CR49 article-title: and neural crest cell anomalies in Treacher Collins syndrome type 4 publication-title: Genet. Med. doi: 10.1038/s41436-019-0669-9 – volume: 1000 start-page: 2078 year: 2009 end-page: 2079 ident: CR68 article-title: The Sequence Alignment/Map format and SAMtools publication-title: Bioinformatics doi: 10.1093/bioinformatics/btp352 – volume: 526 start-page: 68 year: 2015 end-page: 74 ident: CR55 article-title: A global reference for human genetic variation publication-title: Nature doi: 10.1038/nature15393 – volume: 12 start-page: 755 year: 2015 end-page: 758 ident: CR60 article-title: Efficient set tests for the genetic analysis of correlated traits publication-title: Nat. Methods doi: 10.1038/nmeth.3439 – volume: 501 start-page: 506 year: 2013 end-page: 511 ident: CR5 article-title: Transcriptome and genome sequencing uncovers functional variation in humans publication-title: Nature doi: 10.1038/nature12531 – volume: 40 start-page: 3685 year: 2019 end-page: 3695 ident: CR14 article-title: Modelling diastolic dysfunction in induced pluripotent stem cell-derived cardiomyocytes from hypertrophic cardiomyopathy patients publication-title: Eur. Heart J. doi: 10.1093/eurheartj/ehz326 – volume: 66 start-page: 2888 year: 2017 end-page: 2902 ident: CR53 article-title: An expanded genome-wide association study of type 2 publication-title: Diabetes doi: 10.2337/db16-1253 – volume: 17 year: 2016 ident: CR65 article-title: Vcfanno: fast, flexible annotation of genetic variants publication-title: Genome Biol. doi: 10.1186/s13059-016-0973-5 – volume: 26 start-page: 1312 year: 2018 end-page: 1318 ident: CR66 article-title: Frequency of genetic variants associated with arrhythmogenic right ventricular cardiomyopathy in the genome aggregation database publication-title: Eur. J. Hum. Genet. doi: 10.1038/s41431-018-0169-4 – volume: 45 start-page: D691 year: 2017 end-page: D697 ident: CR56 article-title: The human-induced pluripotent stem cell initiative-data resources for cellular genetics publication-title: Nucleic Acids Res. doi: 10.1093/nar/gkw928 – volume: 18 start-page: 1031 year: 2016 end-page: 1042 ident: CR13 article-title: iPSC-derived cardiomyocytes reveal abnormal TGF-β signalling in left ventricular non-compaction cardiomyopathy publication-title: Nat. Cell Biol. doi: 10.1038/ncb3411 – volume: 98 start-page: 299 year: 2016 end-page: 309 ident: CR32 article-title: A burden of rare variants associated with extremes of gene expression in human peripheral blood publication-title: Am. J. Hum. Genet. doi: 10.1016/j.ajhg.2015.12.023 – volume: 20 start-page: 558 year: 2017 end-page: 570 ident: CR19 article-title: Large, diverse population cohorts of hiPSCs and derived hepatocyte-like cells reveal functional genetic variation at blood lipid-associated loci publication-title: Cell Stem Cell doi: 10.1016/j.stem.2017.03.017 – volume: 28 start-page: 122 year: 2018 end-page: 131 ident: CR20 article-title: Impact of regulatory variation across human iPSCs and differentiated cells publication-title: Genome Res. doi: 10.1101/gr.224436.117 – volume: 7 year: 2015 ident: CR47 article-title: A genome-wide approach to link genotype to clinical outcome by utilizing next-generation sequencing and gene chip data of 6,697 breast cancer patients publication-title: Genome Med. doi: 10.1186/s13073-015-0228-1 – volume: 8 year: 2017 ident: CR37 article-title: Genetic diagnosis of Mendelian disorders via RNA sequencing publication-title: Nat. Commun. doi: 10.1038/ncomms15824 – ident: CR69 – volume: 64 start-page: 42 year: 2015 end-page: 52 ident: CR54 article-title: The immunogenetics of primary biliary cirrhosis: a comprehensive review publication-title: J. Autoimmun. doi: 10.1016/j.jaut.2015.07.004 – volume: 47 start-page: D886 year: 2019 end-page: D894 ident: CR67 article-title: CADD: predicting the deleteriousness of variants throughout the human genome publication-title: Nucleic Acids Res. doi: 10.1093/nar/gky1016 – volume: 11 year: 2020 ident: CR8 article-title: Single-cell RNA sequencing of differentiating iPS cells reveals dynamic genetic effects on gene expression publication-title: Nat. Commun. doi: 10.1038/s41467-020-14457-z – volume: 7 start-page: 1860 year: 2018 ident: CR64 article-title: False positives in -eQTL and coexpression analyses arising from RNA-sequencing alignment errors publication-title: F1000Res. doi: 10.12688/f1000research.17145.1 – volume: 49 start-page: 139 year: 2017 end-page: 145 ident: CR3 article-title: Identification of context-dependent expression quantitative trait loci in whole blood publication-title: Nat. Genet. doi: 10.1038/ng.3737 – volume: 29 start-page: 1011 year: 2011 end-page: 1018 ident: CR15 article-title: SIRPA is a specific cell-surface marker for isolating cardiomyocytes derived from human pluripotent stem cells publication-title: Nat. Biotechnol. doi: 10.1038/nbt.2005 – volume: 32 start-page: 1479 year: 2016 end-page: 1485 ident: CR62 article-title: Fast and efficient QTL mapper for thousands of molecular phenotypes publication-title: Bioinformatics doi: 10.1093/bioinformatics/btv722 – ident: CR59 – volume: 45 start-page: 1452 year: 2013 end-page: 1458 ident: CR52 article-title: Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer’s disease publication-title: Nat. Genet. doi: 10.1038/ng.2802 – volume: 47 start-page: D886 year: 2019 ident: 800_CR67 publication-title: Nucleic Acids Res. doi: 10.1093/nar/gky1016 – volume: 49 start-page: 139 year: 2017 ident: 800_CR3 publication-title: Nat. Genet. doi: 10.1038/ng.3737 – volume: 99 start-page: 1245 year: 2016 ident: 800_CR41 publication-title: Am. J. Hum. Genet. doi: 10.1016/j.ajhg.2016.10.003 – volume: 45 start-page: 1238 year: 2013 ident: 800_CR1 publication-title: Nat. Genet. doi: 10.1038/ng.2756 – volume: 20 start-page: 558 year: 2017 ident: 800_CR19 publication-title: Cell Stem Cell doi: 10.1016/j.stem.2017.03.017 – volume: 17 year: 2016 ident: 800_CR65 publication-title: Genome Biol. doi: 10.1186/s13059-016-0973-5 – volume: 546 start-page: 370 year: 2017 ident: 800_CR17 publication-title: Nature doi: 10.1038/nature22403 – volume: 49 start-page: 1113 year: 2017 ident: 800_CR50 publication-title: Nat. Genet. doi: 10.1038/ng.3874 – volume: 466 start-page: 707 year: 2010 ident: 800_CR46 publication-title: Nature doi: 10.1038/nature09270 – volume: 7 start-page: 1860 year: 2018 ident: 800_CR64 publication-title: F1000Res. doi: 10.12688/f1000research.17145.1 – ident: 800_CR9 doi: 10.1038/s41588-021-00801-6 – volume: 526 start-page: 68 year: 2015 ident: 800_CR55 publication-title: Nature doi: 10.1038/nature15393 – volume: 7 year: 2015 ident: 800_CR47 publication-title: Genome Med. doi: 10.1186/s13073-015-0228-1 – volume: 11 year: 2020 ident: 800_CR31 publication-title: Nat. Commun. doi: 10.1038/s41467-020-16481-5 – volume: 39 start-page: D945 year: 2010 ident: 800_CR27 publication-title: Nucleic Acids Res. doi: 10.1093/nar/gkq929 – volume: 122 start-page: 433 year: 2018 ident: 800_CR44 publication-title: Circ. Res. doi: 10.1161/CIRCRESAHA.117.312086 – volume: 98 start-page: 299 year: 2016 ident: 800_CR32 publication-title: Am. J. Hum. Genet. doi: 10.1016/j.ajhg.2015.12.023 – ident: 800_CR42 doi: 10.1093/bioinformatics/btz469 – volume: 28 start-page: 122 year: 2018 ident: 800_CR20 publication-title: Genome Res. doi: 10.1101/gr.224436.117 – volume: 20 start-page: 533 year: 2017 ident: 800_CR58 publication-title: Cell Stem Cell doi: 10.1016/j.stem.2017.03.009 – volume: 550 start-page: 204 year: 2017 ident: 800_CR4 publication-title: Nature doi: 10.1038/nature24277 – volume: 7 start-page: 500 year: 2012 ident: 800_CR34 publication-title: Nat. Protoc. doi: 10.1038/nprot.2011.457 – volume: 50 start-page: 424 year: 2018 ident: 800_CR6 publication-title: Nat. Genet. doi: 10.1038/s41588-018-0046-7 – volume: 51 start-page: 187 year: 2019 ident: 800_CR29 publication-title: Nat. Genet. doi: 10.1038/s41588-018-0268-8 – volume: 5 start-page: e15657 year: 2016 ident: 800_CR28 publication-title: eLife doi: 10.7554/eLife.15657 – volume: 27 start-page: 3641 year: 2018 ident: 800_CR48 publication-title: Hum. Mol. Genet. doi: 10.1093/hmg/ddy271 – volume: 4 start-page: 130ra47 year: 2012 ident: 800_CR10 publication-title: Sci. Transl. Med. doi: 10.1126/scitranslmed.3003552 – volume: 550 start-page: 239 year: 2017 ident: 800_CR23 publication-title: Nature doi: 10.1038/nature24267 – volume: 38 start-page: 611 year: 2017 ident: 800_CR38 publication-title: Hum. Mutat. doi: 10.1002/humu.23211 – volume: 95 start-page: 245 year: 2014 ident: 800_CR33 publication-title: Am. J. Hum. Genet. doi: 10.1016/j.ajhg.2014.08.004 – volume: 501 start-page: 506 year: 2013 ident: 800_CR5 publication-title: Nature doi: 10.1038/nature12531 – volume: 11 year: 2020 ident: 800_CR26 publication-title: Nat. Commun. doi: 10.1038/s41467-020-14561-0 – volume: 18 start-page: 1031 year: 2016 ident: 800_CR13 publication-title: Nat. Cell Biol. doi: 10.1038/ncb3411 – volume: 15 start-page: 625 year: 2014 ident: 800_CR16 publication-title: Nat. Rev. Genet. doi: 10.1038/nrg3764 – volume: 572 start-page: 335 year: 2019 ident: 800_CR12 publication-title: Nature doi: 10.1038/s41586-019-1406-x – volume: 11 start-page: e1005216 year: 2015 ident: 800_CR25 publication-title: PLoS Genet. doi: 10.1371/journal.pgen.1005216 – volume: 8 start-page: 1086 year: 2017 ident: 800_CR18 publication-title: Stem Cell Rep. doi: 10.1016/j.stemcr.2017.03.012 – volume: 40 start-page: 3685 year: 2019 ident: 800_CR14 publication-title: Eur. Heart J. doi: 10.1093/eurheartj/ehz326 – volume: 24 start-page: 883 year: 2018 ident: 800_CR57 publication-title: Cell Rep. doi: 10.1016/j.celrep.2018.06.091 – ident: 800_CR36 – volume: 29 start-page: 1011 year: 2011 ident: 800_CR15 publication-title: Nat. Biotechnol. doi: 10.1038/nbt.2005 – volume: 26 start-page: 1312 year: 2018 ident: 800_CR66 publication-title: Eur. J. Hum. Genet. doi: 10.1038/s41431-018-0169-4 – volume: 20 start-page: 518 year: 2017 ident: 800_CR21 publication-title: Cell Stem Cell doi: 10.1016/j.stem.2016.11.005 – ident: 800_CR69 – volume: 25 start-page: 911 year: 2019 ident: 800_CR22 publication-title: Nat. Med. doi: 10.1038/s41591-019-0457-8 – volume: 44 start-page: 1137 year: 2012 ident: 800_CR45 publication-title: Nat. Genet. doi: 10.1038/ng.2395 – volume: 12 start-page: 101 year: 2013 ident: 800_CR11 publication-title: Cell Stem Cell doi: 10.1016/j.stem.2012.10.010 – volume: 1000 start-page: 2078 year: 2009 ident: 800_CR68 publication-title: Bioinformatics doi: 10.1093/bioinformatics/btp352 – volume: 66 start-page: 2888 year: 2017 ident: 800_CR53 publication-title: Diabetes doi: 10.2337/db16-1253 – volume: 64 start-page: 42 year: 2015 ident: 800_CR54 publication-title: J. Autoimmun. doi: 10.1016/j.jaut.2015.07.004 – ident: 800_CR39 doi: 10.56021/9780801857423 – volume: 51 start-page: 768 year: 2019 ident: 800_CR43 publication-title: Nat. Genet. doi: 10.1038/s41588-019-0404-0 – volume: 50 start-page: 54 year: 2018 ident: 800_CR7 publication-title: Nat. Genet. doi: 10.1038/s41588-017-0005-8 – ident: 800_CR59 – volume: 45 start-page: 1452 year: 2013 ident: 800_CR52 publication-title: Nat. Genet. doi: 10.1038/ng.2802 – volume: 12 start-page: 755 year: 2015 ident: 800_CR60 publication-title: Nat. Methods doi: 10.1038/nmeth.3439 – volume: 81 start-page: 559 year: 2007 ident: 800_CR61 publication-title: Am. J. Hum. Genet. doi: 10.1086/519795 – volume: 33 start-page: 1173 year: 2015 ident: 800_CR24 publication-title: Nat. Biotechnol. doi: 10.1038/nbt.3388 – volume: 8 year: 2017 ident: 800_CR37 publication-title: Nat. Commun. doi: 10.1038/ncomms15824 – volume: 71 start-page: 370 year: 2012 ident: 800_CR51 publication-title: Ann. Neurol. doi: 10.1002/ana.22687 – volume: 100 start-page: 9440 year: 2003 ident: 800_CR63 publication-title: Proc. Natl Acad. Sci. USA doi: 10.1073/pnas.1530509100 – volume: 32 start-page: 1479 year: 2016 ident: 800_CR62 publication-title: Bioinformatics doi: 10.1093/bioinformatics/btv722 – ident: 800_CR35 doi: 10.1126/science.aaz5900 – volume: 49 start-page: 131 year: 2017 ident: 800_CR2 publication-title: Nat. Genet. doi: 10.1038/ng.3721 – volume: 45 start-page: D691 year: 2017 ident: 800_CR56 publication-title: Nucleic Acids Res. doi: 10.1093/nar/gkw928 – volume: 47 start-page: D1005 year: 2019 ident: 800_CR30 publication-title: Nucleic Acids Res. doi: 10.1093/nar/gky1120 – volume: 11 year: 2020 ident: 800_CR8 publication-title: Nat. Commun. doi: 10.1038/s41467-020-14457-z – volume: 22 start-page: 547 year: 2020 ident: 800_CR49 publication-title: Genet. Med. doi: 10.1038/s41436-019-0669-9 – volume: 32 start-page: 1493 year: 2016 ident: 800_CR40 publication-title: Bioinformatics doi: 10.1093/bioinformatics/btw018 – reference: 33785895 - Nat Rev Genet. 2021 May;22(5):265
SSID	ssj0014408
Score	2.5385582
Snippet	Induced pluripotent stem cells (iPSCs) are an established cellular system to study the impact of genetic variants in derived cell types and developmental...
SourceID	pubmedcentral proquest gale pubmed crossref springer
SourceType	Open Access Repository Aggregation Database Index Database Enrichment Source Publisher
StartPage	313
SubjectTerms	38/39 38/91 45/100 631/208/191/2018 631/208/200 631/532 Agriculture Animal Genetics and Genomics Bardet-Biedl Syndrome - genetics Biomedical and Life Sciences Biomedicine Calcium Channels - genetics Cancer Research Cell Line Cerebellar Ataxia - genetics Disease DNA Methylation Gene Expression Gene Function Genetic aspects Genetic diversity Genetic regulation Genetic research Genetic variance Genetic Variation Genomes Genotype & phenotype Human Genetics Humans Induced Pluripotent Stem Cells - cytology Induced Pluripotent Stem Cells - physiology Pluripotency Polymorphism, Single Nucleotide Proteins - genetics Quantitative Trait Loci Rare diseases Rare Diseases - genetics Regulatory Sequences, Nucleic Acid Sequence Analysis, RNA Stem cells Whole Genome Sequencing
Title	Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics
URI	https://link.springer.com/article/10.1038/s41588-021-00800-7 https://www.ncbi.nlm.nih.gov/pubmed/33664507 https://www.proquest.com/docview/2507561450 https://www.proquest.com/docview/2498496440 https://pubmed.ncbi.nlm.nih.gov/PMC7944648
Volume	53
WOSCitedRecordID	wos000625825000002&url=https%3A%2F%2Fcvtisr.summon.serialssolutions.com%2F%23%21%2Fsearch%3Fho%3Df%26include.ft.matches%3Dt%26l%3Dnull%26q%3D
hasFullText	1
inHoldings	1
isFullTextHit
isPrint
journalDatabaseRights	– providerCode: PRVPQU databaseName: Biological Science Database customDbUrl: eissn: 1546-1718 dateEnd: 20241209 omitProxy: false ssIdentifier: ssj0014408 issn: 1061-4036 databaseCode: M7P dateStart: 20000101 isFulltext: true titleUrlDefault: http://search.proquest.com/biologicalscijournals providerName: ProQuest – providerCode: PRVPQU databaseName: Health & Medical Collection customDbUrl: eissn: 1546-1718 dateEnd: 20241209 omitProxy: false ssIdentifier: ssj0014408 issn: 1061-4036 databaseCode: 7X7 dateStart: 20000101 isFulltext: true titleUrlDefault: https://search.proquest.com/healthcomplete providerName: ProQuest – providerCode: PRVPQU databaseName: ProQuest Central customDbUrl: eissn: 1546-1718 dateEnd: 20241209 omitProxy: false ssIdentifier: ssj0014408 issn: 1061-4036 databaseCode: BENPR dateStart: 20000101 isFulltext: true titleUrlDefault: https://www.proquest.com/central providerName: ProQuest – providerCode: PRVPQU databaseName: ProQuest Research Library customDbUrl: eissn: 1546-1718 dateEnd: 20241209 omitProxy: false ssIdentifier: ssj0014408 issn: 1061-4036 databaseCode: M2O dateStart: 20000101 isFulltext: true titleUrlDefault: https://search.proquest.com/pqrl providerName: ProQuest – providerCode: PRVPQU databaseName: Public Health Database customDbUrl: eissn: 1546-1718 dateEnd: 20241209 omitProxy: false ssIdentifier: ssj0014408 issn: 1061-4036 databaseCode: 8C1 dateStart: 20000101 isFulltext: true titleUrlDefault: https://search.proquest.com/publichealth providerName: ProQuest
link	http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwpV3da9swEBdru8Feus9u6bqgjcEeNtPYViT5aXSlZYMtDV0peROyZHWBYqdxUuh_3ztZcedA-7IXQ6JTYkmn-9CdfkfIJ9g-3IElHaVp7iJmhYi0y3QExlxqM1sw7SGFzn-J0UhOJtk4HLjVIa1yJRO9oLaVwTPyfVDVAlErh4Nvs6sIq0ZhdDWU0NggW4iSkPjUvXEbRcBqyj7aydFPwjDlbnPNXO7XoLiARzBBwRtNkegopnXx_I9-Ws-dXAuger10_Ox_R_ScbAeLlB40LPSCPCrKl-RJU6Py5hW5aq7yunC2RytHwb8uqC4thf-BH6Hzpp59Nb-h1-B6Y2YNnZZ0drkEiVSBUb6gGB-oKSbZX9BZWzMsqoFDCrpAfemlF16Rrl-Ts-Ojs8MfUajTEBlwNxaRATHBNDPgbDj4JnbOJTG3eZ7mmufDPLFaCyeElkzzzLlBanInJZcDbjWYgDtks6zK4i2hRWxhPgqrk8KwJIlzk9hBnGuN0dDM5T0Sr9ZImYBhjqU0LpWPpadSNeuqYF2VX1cleuRL22fWIHg8SP0Rl14hNEaJuTcXelnX6ufJuTrgw6FANNf0PqI_px2iz4HIVfCORof7DjBShNzqUO51KGGDm27zin9UEDC1umOeHvnQNmNPTJori2oJNCyTLAODF2jeNFzbzkCacg6dYbyiw88tAcKOd1vK6V8PPw4SnHEme-TrivPvXuv-id19eBTvyNPEb0bM7tsjm4v5snhPHpvrxbSe98mGmAj_lPCUh3GfbH0_Go1P4dPv5KTvt_0tWzFZrA
linkProvider	ProQuest
linkToHtml	http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMw1V1bb9MwFLbGAMEL90vHAINAPEC0JnHt5AGhCZhWrXQIqmlvluNLqTQlXdIO9UfxHzknt5FK29seeI2PI9v5zsU5N0LeAPtwB5a0F4aJ85gRwlMuVh4Yc6GJjWWqLCl0NBLjcXR8HH_fIH-aXBgMq2xkYimoTabxH_kOqGqBVSsH_U_zUw-7RqF3tWmhUcHiwK5-w5Wt-Dj8At_3bRDsfZ183vfqrgKeBuN44WkANVNMg2ns4InvnAt8bpIkTBRPBklglBJOCBUxxWPn-qFOXBTxqM-NAoMFXnuNXGd4EcJIweCwdVpg8-bSucrxWoZe0a0qqz3aKUBPAiQxHqK00TzR0YPr2uAfdbgeqrnmry3V4N7d_-wA75E7tb1NdysGuU82bPqA3Kw6cK4ektMqUdnVfy5p5miucktVaihsC9ZMczvFFmdZvqJnCtg1XRR0ltL5yRLkbQZXjgVF70dBMYVgSudtRzSvAPxbukBroJTNmABePCKTq9juY7KZZql9Sqj1DRy_NSqwmgWBn-jA9P1EKfT1xi7pEb-BhNR1hXZsFHIiy0iBMJIVjCTASJYwkqJH3rdz5lV9kkupXyPSJBb-SDGyaKqWRSGHh0dylw8GAmvVhhcR_fzRIXpXE7kM1qhVnc0BO8WCYh3K7Q4liC_dHW7gKmvxWchzrPbIq3YYZ2JIYGqzJdCwOGIxmPNA86RikvYEwpBzmAz7FR32aQmwqHp3JJ39Kourg35inEU98qFhtPNlXXywW5fv4iW5tT_5NpKj4fjgGbkdlHIA4xi3yeYiX9rn5IY-W8yK_EUpUSiRV8yAfwEG0bLJ
linkToPdf	http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMw1V1Jb9NAFB6VFBAX9iWlwIBAPYCVxJ547ANChTYiahWiUlW9jcazhEiVndpOUX4a_473vBVHam89cPW8sWbG31vGbyPkPbCPb8GSdjwvsg7TnDvShtIBY87ToTZMFiWFTg75ZBKcnobTDfKnzoXBsMpaJhaCWicK_5H3QFVzrFo57PdsFRYx3Rt9WZw72EEKPa11O40SIgdm9Ruub9nn8R586w-uO9o__vbdqToMOAoM5dxRAHAmmQIz2cKTgbXWHfg6irxI-tEwcrWU3HIuAyb90Nq-pyIbBH7Q97UE4wVee4tscrAxWIdsft2fTI8aFwa2ci5crT5e0tBHulXmuAe9DLQmABSjIwqLzeEtrbiuG_5RjuuBm2ve20Ipjh78x8f5kNyvLHG6W7LOI7Jh4sfkTtmbc_WEnJcpzLb6p0kTS1OZGipjTWGLsGaamhk2P0vSFb2QwMhxntF5TBdnS5DECVxGcop-kYxicsGMLppeaU4GnGFojnZCIbUxNTx7So5vYrvPSCdOYvOCUDPQ8CmMlq5RzHUHkXJ1fxBJiV7g0EZdMqjhIVRVux1biJyJIobAC0QJKQGQEgWkBO-Sj82cRVm55Frqd4g6gSVBYkTDTC6zTIx_nIhdfzjkWMXWu4ro51GLaKcisgmsUckqzwN2iqXGWpTbLUoQbKo9XENXVII1E5e47ZK3zTDOxGDB2CRLoGFhwEIw9IHmeckwzQl4nu_DZNgvb7FSQ4Dl1tsj8fxXUXYdNBfzWdAln2qmu1zW1Qe7df0u3pC7wHficDw5eEnuuYVIwADHbdLJ06V5RW6ri3yepa8r8UKJuGEO_AsanLzm
openUrl	ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=Identification+of+rare+and+common+regulatory+variants+in+pluripotent+cells+using+population-scale+transcriptomics&rft.jtitle=Nature+genetics&rft.au=Bonder%2C+Marc+Jan&rft.au=Smail%2C+Craig&rft.au=Gloudemans%2C+Michael+J&rft.au=Fr%C3%A9sard%2C+Laure&rft.date=2021-03-01&rft.pub=Nature+Publishing+Group&rft.issn=1061-4036&rft.volume=53&rft.issue=3&rft.spage=313&rft_id=info:doi/10.1038%2Fs41588-021-00800-7&rft.externalDBID=ISR&rft.externalDocID=A655717913
thumbnail_l	http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=1061-4036&client=summon
thumbnail_m	http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=1061-4036&client=summon
thumbnail_s	http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=1061-4036&client=summon