Cell type–specific genetic regulation of gene expression across human tissues | Zendy

Sarah Kim-Hellmuth | Zendy; François Aguet | Zendy; Meritxell Oliva | Zendy; Manuel Muñoz-Aguirre | Zendy; Silva Kasela | Zendy; Valentin Wucher | Zendy; Stephane E. Castel | Zendy; Andrew R. Hamel | Zendy; Ana Viñuela | Zendy; Amy L. Roberts | Zendy; Serghei Mangul | Zendy; Xiaoquan Wen | Zendy; Gao Wang | Zendy; Alvaro Barbeira | Zendy; Diego Garrido-Martín | Zendy; Brian B. Nadel | Zendy; Yuxin Zou | Zendy; Rodrigo Bonazzola | Zendy; Jie Quan | Zendy; Andrew Brown | Zendy; Ángel Martínez-Pérez | Zendy; José Manuel Soria | Zendy; Gad Getz | Zendy; Emmanouil T. Dermitzakis | Zendy; Kerrin S. Small | Zendy; Matthew Stephens | Zendy; Hualin Simon Xi | Zendy; Hae Kyung Im | Zendy; Roderic Guigó | Zendy; Ayellet V. Segrè | Zendy; Barbara E. Stranger | Zendy; Kristin Ardlie | Zendy; Tuuli Lappalainen | Zendy; Shankara Anand | Zendy; Stacey Gabriel | Zendy; Aaron Graubert | Zendy; Kane Hadley | Zendy; Robert E. Handsaker | Zendy; Katherine Huang | Zendy; Seva Kashin | Zendy; Xiao Li | Zendy; Daniel G. MacArthur | Zendy; Samuel R. Meier | Zendy; Jared L. Nedzel | Zendy; Duyen T. Nguyen | Zendy; Ellen Todres | Zendy; Brunilda Balliu | Zendy; Alexis Battle | Zendy; Christopher D. Brown | Zendy; Donald F. Conrad | Zendy; Daniel J. Cotter | Zendy; Nancy J. Cox | Zendy; Sayantan Das | Zendy; Olivia M. de Goede | Zendy; Jonah Einson | Zendy; Barbara E. Engelhardt | Zendy; Eleazar Eskin | Zendy; Tiffany Eulalio | Zendy; Nicole M. Ferraro | Zendy; Elise D. Flynn | Zendy; Laure Frésard | Zendy; Eric R. Gamazon | Zendy; Nicole R. Gay | Zendy; Michael J. Gloudemans | Zendy; Andrew R. Hame | Zendy; Yuan He | Zendy; Paul Hoffman | Zendy; Farhad Hormozdiari | Zendy; Lei Hou | Zendy; Brian Jo | Zendy; Manolis Kellis | Zendy; Alan Kwong | Zendy; Xin Li | Zendy; Yanyu Liang | Zendy; Pejman Mohammadi | Zendy; Stephen B. Montgomery | Zendy; Daniel Nachun | Zendy; Andrew B. Nobel | Zendy; YoSon Park | Zendy; Yongjin Park | Zendy; Princy Parsana | Zendy; Abhiram Rao | Zendy; Ferrán Reverter | Zendy; John M. Rouhana | Zendy; Chiara Sabatti | Zendy; Ashis Saha | Zendy; Benjamin J. Strober | Zendy; Nicole A. Teran | Zendy; Fred A. Wright | Zendy; Pedro G. Ferreira | Zendy; Gen Li | Zendy; Marta Melé | Zendy; Esti YegerLotem | Zendy; Mary E. Barcus | Zendy; Debra Bradbury | Zendy; Tanya Krubit | Zendy; Jeffrey A. McLean | Zendy; Liqun Qi | Zendy; Karna Robinson | Zendy; Nancy Roche | Zendy; Anna M. Smith | Zendy; Leslie H. Sobin | Zendy; David E. Tabor | Zendy; Anita H. Undale | Zendy; Jason Bridge | Zendy; Lori E. Brigham | Zendy; Barbara A. Foster | Zendy; Bryan M. Gillard | Zendy; Richard Hasz | Zendy; Marcus Anthony Hunter | Zendy; Christopher Johns | Zendy; Mark P. Johnson | Zendy; Ellen Karasik | Zendy; Gene Kopen | Zendy; William F. Leinweber | Zendy; Alisa McDonald | Zendy; Michael T. Moser | Zendy; Kevin Myer | Zendy; Kimberley D. Ramsey | Zendy; Brian Roe | Zendy; Saboor Shad | Zendy; Jeffrey A. Thomas | Zendy; Gary Walters | Zendy; Michael Washington | Zendy; J. Gary Wheeler | Zendy; Scott D. Jewell | Zendy; Daniel C. Rohrer | Zendy; Dana R. Valley | Zendy; David A. Davis | Zendy; Deborah C. Mash | Zendy; Philip A. Branton | Zendy; Laura K. Barker | Zendy; Heather M. Gardiner | Zendy; Maghboeba Mosavel | Zendy; Laura A. Siminoff | Zendy; Paul Flicek | Zendy; Maximilian Haeussler | Zendy; Thomas Juettemann | Zendy; W. James Kent | Zendy; Christopher M. Lee | Zendy; Conner C. Powell | Zendy; Kate R. Rosenbloom | Zendy; Magali Ruffier | Zendy; Dan Sheppard | Zendy; Kieron Taylor | Zendy; Stephen J. Trevanion | Zendy; Daniel R. Zerbino | Zendy; Nathan S. Abell | Zendy; Joshua M. Akey | Zendy; Lin Chen | Zendy; Kathryn Demanelis | Zendy; Jennifer A. Doherty | Zendy; Andrew P. Feinberg | Zendy; Kasper D. Hansen | Zendy; Peter F. Hickey | Zendy; Farzana Jasmine | Zendy; Lihua Jiang | Zendy; Rajinder Kaul | Zendy; Muhammad G. Kibriya | Zendy; Jin Billy Li | Zendy; Qin Li | Zendy; Shin Lin | Zendy; Sandra E. Linder | Zendy; Brandon L. Pierce | Zendy; Lindsay F. Rizzardi | Zendy; Andrew D. Skol | Zendy; Kevin S. Smith | Zendy; M Snyder | Zendy; J Stamatoyannopoulos | Zendy; Hua Tang | Zendy; Meng Wang | Zendy; Latarsha J. Carithers | Zendy; Ping Guan | Zendy; Susan E. Koester | Zendy; A. Roger Little | Zendy; Helen M. Moore | Zendy; Concepcion R. Nierras | Zendy; Abhi K. Rao | Zendy; Jimmie B. Vaught | Zendy; Simona Volpi | Zendy

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Cell type–specific genetic regulation of gene expression across human tissues

Author(s) -

Sarah Kim-Hellmuth,

François Aguet,

Meritxell Oliva,

Manuel Muñoz-Aguirre,

Silva Kasela,

Valentin Wucher,

Stephane E. Castel,

Andrew R. Hamel,

Ana Viñuela,

Amy L. Roberts,

Serghei Mangul,

Xiaoquan Wen,

Gao Wang,

Alvaro Barbeira,

Diego Garrido-Martín,

Brian B. Nadel,

Yuxin Zou,

Rodrigo Bonazzola,

Jie Quan,

Andrew Brown,

Ángel Martínez-Pérez,

José Manuel Soria,

Gad Getz,

Emmanouil T. Dermitzakis,

Kerrin S. Small,

Matthew Stephens,

Hualin Simon Xi,

Hae Kyung Im,

Roderic Guigó,

Ayellet V. Segrè,

Barbara E. Stranger,

Kristin Ardlie,

Tuuli Lappalainen,

Shankara Anand,

Stacey Gabriel,

Aaron Graubert,

Kane Hadley,

Robert E. Handsaker,

Katherine Huang,

Seva Kashin,

Xiao Li,

Daniel G. MacArthur,

Samuel R. Meier,

Jared L. Nedzel,

Duyen T. Nguyen,

Ellen Todres,

Brunilda Balliu,

Alexis Battle,

Christopher D. Brown,

Donald F. Conrad,

Daniel J. Cotter,

Nancy J. Cox,

Sayantan Das,

Olivia M. de Goede,

Jonah Einson,

Barbara E. Engelhardt,

Eleazar Eskin,

Tiffany Eulalio,

Nicole M. Ferraro,

Elise D. Flynn,

Laure Frésard,

Eric R. Gamazon,

Nicole R. Gay,

Michael J. Gloudemans,

Andrew R. Hame,

Yuan He,

Paul Hoffman,

Farhad Hormozdiari,

Lei Hou,

Brian Jo,

Manolis Kellis,

Alan Kwong,

Xin Li,

Yanyu Liang,

Pejman Mohammadi,

Stephen B. Montgomery,

Daniel Nachun,

Andrew B. Nobel,

YoSon Park,

Yongjin Park,

Princy Parsana,

Abhiram Rao,

Ferrán Reverter,

John M. Rouhana,

Chiara Sabatti,

Ashis Saha,

Benjamin J. Strober,

Nicole A. Teran,

Fred A. Wright,

Pedro G. Ferreira,

Gen Li,

Marta Melé,

Esti YegerLotem,

Mary E. Barcus,

Debra Bradbury,

Tanya Krubit,

Jeffrey A. McLean,

Liqun Qi,

Karna Robinson,

Nancy Roche,

Anna M. Smith,

Leslie H. Sobin,

David E. Tabor,

Anita H. Undale,

Jason Bridge,

Lori E. Brigham,

Barbara A. Foster,

Bryan M. Gillard,

Richard Hasz,

Marcus Anthony Hunter,

Christopher Johns,

Mark P. Johnson,

Ellen Karasik,

Gene Kopen,

William F. Leinweber,

Alisa McDonald,

Michael T. Moser,

Kevin Myer,

Kimberley D. Ramsey,

Brian Roe,

Saboor Shad,

Jeffrey A. Thomas,

Gary Walters,

Michael Washington,

J. Gary Wheeler,

Scott D. Jewell,

Daniel C. Rohrer,

Dana R. Valley,

David A. Davis,

Deborah C. Mash,

Philip A. Branton,

Laura K. Barker,

Heather M. Gardiner,

Maghboeba Mosavel,

Laura A. Siminoff,

Paul Flicek,

Maximilian Haeussler,

Thomas Juettemann,

W. James Kent,

Christopher M. Lee,

Conner C. Powell,

Kate R. Rosenbloom,

Magali Ruffier,

Dan Sheppard,

Kieron Taylor,

Stephen J. Trevanion,

Daniel R. Zerbino,

Nathan S. Abell,

Joshua M. Akey,

Lin Chen,

Kathryn Demanelis,

Jennifer A. Doherty,

Andrew P. Feinberg,

Kasper D. Hansen,

Peter F. Hickey,

Farzana Jasmine,

Lihua Jiang,

Rajinder Kaul,

Muhammad G. Kibriya,

Jin Billy Li,

Qin Li,

Shin Lin,

Sandra E. Linder,

Brandon L. Pierce,

Lindsay F. Rizzardi,

Andrew D. Skol,

Kevin S. Smith,

M Snyder,

J Stamatoyannopoulos,

Hua Tang,

Meng Wang,

Latarsha J. Carithers,

Ping Guan,

Susan E. Koester,

A. Roger Little,

Helen M. Moore,

Concepcion R. Nierras,

Abhi K. Rao,

Jimmie B. Vaught,

Simona Volpi

Publication year - 2020

Publication title -

science

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 12.556

H-Index - 1186

eISSN - 1095-9203

pISSN - 0036-8075

DOI - 10.1126/science.aaz8528

Subject(s) - gene , cell type , biology , gene expression , cell , genetics , regulation of gene expression , microbiology and biotechnology , computational biology

The Genotype-Tissue Expression (GTEx) project has identified expression and splicing quantitative trait loci in cis (QTLs) for the majority of genes across a wide range of human tissues. However, the functional characterization of these QTLs has been limited by the heterogeneous cellular composition of GTEx tissue samples. We mapped interactions between computational estimates of cell type abundance and genotype to identify cell type–interaction QTLs for seven cell types and show that cell type–interaction expression QTLs (eQTLs) provide finer resolution to tissue specificity than bulk tissue cis-eQTLs. Analyses of genetic associations with 87 complex traits show a contribution from cell type–interaction QTLs and enables the discovery of hundreds of previously unidentified colocalized loci that are masked in bulk tissue.

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