S
Simona Volpi
Researcher at National Institutes of Health
Publications - 33
Citations - 14954
Simona Volpi is an academic researcher from National Institutes of Health. The author has contributed to research in topics: Regulation of gene expression & Translation (biology). The author has an hindex of 19, co-authored 29 publications receiving 10987 citations.
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Journal ArticleDOI
The Genotype-Tissue Expression (GTEx) project
John T. Lonsdale,Jeffrey Thomas,Mike Salvatore,Rebecca Phillips,Edmund Lo,Saboor Shad,Richard Hasz,Gary Walters,Fernando U. Garcia,Nancy Young,Barbara A. Foster,Mike Moser,Ellen Karasik,Bryan Gillard,Kimberley Ramsey,Susan L. Sullivan,Jason Bridge,Harold Magazine,John Syron,Johnelle Fleming,Laura A. Siminoff,Heather M. Traino,Maghboeba Mosavel,Laura Barker,Scott D. Jewell,Daniel C. Rohrer,Dan Maxim,Dana Filkins,Philip Harbach,Eddie Cortadillo,Bree Berghuis,Lisa Turner,Eric Hudson,Kristin Feenstra,Leslie H. Sobin,James A. Robb,Phillip Branton,Greg E. Korzeniewski,Charles Shive,David Tabor,Liqun Qi,Kevin Groch,Sreenath Nampally,Steve Buia,Angela Zimmerman,Anna M. Smith,Robin Burges,Karna Robinson,Kim Valentino,Deborah Bradbury,Mark Cosentino,Norma Diaz-Mayoral,Mary Kennedy,Theresa Engel,Penelope Williams,Kenyon Erickson,Kristin G. Ardlie,Wendy Winckler,Gad Getz,Gad Getz,David S. DeLuca,MacArthur Daniel MacArthur,MacArthur Daniel MacArthur,Manolis Kellis,Alexander Thomson,Taylor Young,Ellen Gelfand,Molly Donovan,Yan Meng,George B. Grant,Deborah C. Mash,Yvonne Marcus,Margaret J. Basile,Jun Liu,Jun Zhu,Zhidong Tu,Nancy J. Cox,Dan L. Nicolae,Eric R. Gamazon,Hae Kyung Im,Anuar Konkashbaev,Jonathan K. Pritchard,Jonathan K. Pritchard,Matthew Stevens,Timothée Flutre,Xiaoquan Wen,Emmanouil T. Dermitzakis,Tuuli Lappalainen,Roderic Guigó,Jean Monlong,Michael Sammeth,Daphne Koller,Alexis Battle,Sara Mostafavi,Mark I. McCarthy,Manual Rivas,Julian Maller,Ivan Rusyn,Andrew B. Nobel,Fred A. Wright,Andrey A. Shabalin,Mike Feolo,Nataliya Sharopova,Anne Sturcke,Justin Paschal,James M. Anderson,Elizabeth L. Wilder,Leslie Derr,Eric D. Green,Jeffery P. Struewing,Gary F. Temple,Simona Volpi,Joy T. Boyer,Elizabeth J. Thomson,Mark S. Guyer,Cathy Ng,Assya Abdallah,Deborah Colantuoni,Thomas R. Insel,Susan E. Koester,Roger Little,Patrick Bender,Thomas Lehner,Yin Yao,Carolyn C. Compton,Jimmie B. Vaught,Sherilyn Sawyer,Nicole C. Lockhart,Joanne P. Demchok,Helen F. Moore +129 more
TL;DR: The Genotype-Tissue Expression (GTEx) project is described, which will establish a resource database and associated tissue bank for the scientific community to study the relationship between genetic variation and gene expression in human tissues.
Journal ArticleDOI
The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans
Kristin G. Ardlie,David S. DeLuca,Ayellet V. Segrè,Timothy J. Sullivan,Taylor Young,Ellen Gelfand,Casandra A. Trowbridge,Julian Maller,Taru Tukiainen,Monkol Lek,Lucas D. Ward,Pouya Kheradpour,Benjamin Iriarte,Yan Meng,Cameron D. Palmer,Tõnu Esko,Wendy Winckler,Joel N. Hirschhorn,Manolis Kellis,Daniel G. MacArthur,Gad Getz,Andrey A. Shabalin,Gen Li,Yi-Hui Zhou,Andrew B. Nobel,Ivan Rusyn,Fred A. Wright,Tuuli Lappalainen,Pedro G. Ferreira,Halit Ongen,Manuel A. Rivas,Alexis Battle,Sara Mostafavi,Jean Monlong,Michael Sammeth,Marta Melé,Ferran Reverter,Jakob M. Goldmann,Daphne Koller,Roderic Guigó,Mark I. McCarthy,Emmanouil T. Dermitzakis,Eric R. Gamazon,Hae Kyung Im,Anuar Konkashbaev,Dan L. Nicolae,Nancy J. Cox,Timothée Flutre,Xiaoquan Wen,Matthew Stephens,Jonathan K. Pritchard,Zhidong Tu,Bin Zhang,Tao Huang,Quan Long,Luan Lin,Jialiang Yang,Jun Zhu,Jun Liu,Amanda Brown,Bernadette Mestichelli,Denee Tidwell,Edmund Lo,Mike Salvatore,Saboor Shad,Jeffrey A. Thomas,John T. Lonsdale,Michael T. Moser,Bryan Gillard,Ellen Karasik,Kimberly Ramsey,Christopher Choi,Barbara A. Foster,John Syron,Johnell Fleming,Harold Magazine,Rick Hasz,Gary Walters,Jason Bridge,Mark Miklos,Susan L. Sullivan,Laura Barker,Heather M. Traino,Maghboeba Mosavel,Laura A. Siminoff,Dana R. Valley,Daniel C. Rohrer,Scott D. Jewell,Philip A. Branton,Leslie H. Sobin,Mary Barcus,Liqun Qi,Jeffrey McLean,Pushpa Hariharan,Ki Sung Um,Shenpei Wu,David Tabor,Charles Shive,Anna M. Smith,Stephen A. Buia,Anita H. Undale,Karna Robinson,Nancy Roche,Kimberly M. Valentino,Angela Britton,Robin Burges,Debra Bradbury,Kenneth W. Hambright,John Seleski,Greg E. Korzeniewski,Kenyon Erickson,Yvonne Marcus,Jorge Tejada,Mehran Taherian,Chunrong Lu,Margaret J. Basile,Deborah C. Mash,Simona Volpi,Jeffery P. Struewing,Gary F. Temple,Joy T. Boyer,Deborah Colantuoni,Roger Little,Susan E. Koester,Latarsha J. Carithers,Helen M. Moore,Ping Guan,Carolyn C. Compton,Sherilyn Sawyer,Joanne P. Demchok,Jimmie B. Vaught,Chana A. Rabiner,Nicole C. Lockhart +132 more
TL;DR: The landscape of gene expression across tissues is described, thousands of tissue-specific and shared regulatory expression quantitative trait loci (eQTL) variants are cataloged, complex network relationships are described, and signals from genome-wide association studies explained by eQTLs are identified.
Journal ArticleDOI
The GTEx Consortium atlas of genetic regulatory effects across human tissues
François Aguet,Alvaro N. Barbeira,Rodrigo Bonazzola,Andrew A. Brown,SE Castel,Brian Jo,Silva Kasela,Sarah Kim-Hellmuth,Yanyu Liang,Meritxell Oliva,Elise D. Flynn,Princy Parsana,Laure Fresard,Eric R. Gamazon,Andrew R. Hamel,Yuan He,Farhad Hormozdiari,Pejman Mohammadi,Manuel Muñoz-Aguirre,YoSon Park,Ashis Saha,Ayellet V. Segrè,Benjamin J. Strober,Xiaoquan Wen,Wucher,Kristin G. Ardlie,Alexis Battle,Christopher D. Brown,Nancy J. Cox,Souvik Das,Emmanouil T. Dermitzakis,Barbara E. Engelhardt,D Garrido-Martin,Gad Getz,Roderic Guigó,Robert E. Handsaker,Paul J. Hoffman,Hae Kyung Im,Seva Kashin,Alan Kwong,Lappalainen T,Xiao Li,Daniel G. MacArthur,Stephen B. Montgomery,John M. Rouhana,Matthew Stephens,Barbara E. Stranger,Ellen Todres,Ana Viñuela,Gao Wang,Yuxin Zou,Shankara Anand,S. Gabriel,Aaron Graubert,Kane Hadley,Katherine H. Huang,Meier,Jared L. Nedzel,Duyen T. Nguyen,Brunilda Balliu,Donald F. Conrad,Daniel J. Cotter,OM deGoede,Jonah Einson,Eskin E,Tiffany Eulalio,Nicole M. Ferraro,Michael J. Gloudemans,Lei Hou,Serghei Mangul,Daniel Nachun,Andrew B. Nobel,Abhiram Rao,Ferran Reverter,Chiara Sabatti,Andrew D Skol,Nicole A. Teran,Fred A. Wright,Pedro G. Ferreira,Gen Li,Marta Melé,Esti Yeger-Lotem,Mary Barcus,Debra Bradbury,T Krubit,Jeffrey McLean,Liqun Qi,Karna Robinson,Nancy Roche,Anna M. Smith,David E. Tabor,Anita H. Undale,Jason Bridge,Lori E. Brigham,Barbara A. Foster,Bryan Gillard,Rick Hasz,Marcus Hunter,Christopher Johns,Mark H. Johnson,Ellen Karasik,Gene Kopen,William F. Leinweber,Alisa McDonald,Mike Moser,Kevin Myer,Kimberly Ramsey,Bruce A. Roe,Saboor Shad,Jeffrey A. Thomas,Gary Walters,Michael Washington,Jessica Wheeler,Scott D. Jewell,Daniel C. Rohrer,David A. Davis,Deborah C. Mash,Leslie H. Sobin,Laura Barker,HM Gardiner,Maghboeba Mosavel,Laura A. Siminoff,Paul Flicek,Maximilian Haeussler,Thomas Juettemann,W. J. Kent,Christopher Lee,CC Powell,Kate R. Rosenbloom,Magali Ruffier,Dan Sheppard,Kieron Taylor,Stephen J. Trevanion,Zerbino,Nathan S. Abell,Joshua M. Akey,Lin Chen,Kathryn Demanelis,Jennifer A. Doherty,Andrew P. Feinberg,Kasper D. Hansen,Peter Hickey,Farzana Jasmine,Lihua Jiang,Rajinder Kaul,Manolis Kellis,Muhammad G. Kibriya,Jin Billy Li,Qin Li,Shin Lin,Sandra Linder,Brandon L. Pierce,Lindsay F. Rizzardi,Kevin S. Smith,Michael Snyder,John A. Stamatoyannopoulos,Hua Tang,Meng Wang,Phillip Branton,Latarsha J. Carithers,Ping Guan,Susan E. Koester,AR Little,Helen M. Moore,Concepcion R. Nierras,Abhi Rao,Jimmie B. Vaught,Simona Volpi +167 more
Journal ArticleDOI
Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics.
Alvaro N. Barbeira,Scott P. Dickinson,Rodrigo Bonazzola,Jiamao Zheng,Heather E. Wheeler,Jason M. Torres,Eric S. Torstenson,Kaanan P. Shah,Tzintzuni Garcia,Todd L. Edwards,Eli A. Stahl,Laura M. Huckins,François Aguet,Kristin G. Ardlie,Beryl B. Cummings,Ellen Gelfand,Gad Getz,Kane Hadley,Robert E. Handsaker,Katherine H. Huang,Seva Kashin,Konrad J. Karczewski,Monkol Lek,Xiao Li,Xiao Li,Daniel G. MacArthur,Jared L. Nedzel,Duyen T. Nguyen,Michael S. Noble,Ayellet V. Segrè,Casandra A. Trowbridge,Taru Tukiainen,Nathan S. Abell,Brunilda Balliu,Ruth Barshir,Omer Basha,Alexis Battle,Gireesh K. Bogu,Andrew A. Brown,Andrew A. Brown,Christopher D. Brown,Stephane E. Castel,Lin Chen,Colby Chiang,Donald F. Conrad,Farhan N. Damani,Joe R. Davis,Olivier Delaneau,Olivier Delaneau,Emmanouil T. Dermitzakis,Emmanouil T. Dermitzakis,Barbara E. Engelhardt,Eleazar Eskin,Pedro G. Ferreira,Laure Fresard,Eric R. Gamazon,Eric R. Gamazon,Diego Garrido-Martín,Ariel D. H. Gewirtz,Genna Gliner,Michael J. Gloudemans,Roderic Guigó,Ira M. Hall,Buhm Han,Yuan He,Farhad Hormozdiari,Cédric Howald,Cédric Howald,Brian Jo,Eun Yong Kang,Yungil Kim,Sarah Kim-Hellmuth,Tuuli Lappalainen,Gen Li,Xin Li,Boxiang Liu,Serghei Mangul,Mark I. McCarthy,Ian C. McDowell,Pejman Mohammadi,Jean Monlong,Jean Monlong,Stephen B. Montgomery,Manuel Muñoz-Aguirre,Manuel Muñoz-Aguirre,Anne Ndungu,Andrew B. Nobel,Meritxell Oliva,Halit Ongen,Halit Ongen,John Palowitch,Nikolaos I Panousis,Nikolaos I Panousis,Panagiotis Papasaikas,YoSon Park,Princy Parsana,Anthony Payne,Christine B. Peterson,Jie Quan,Ferran Reverter,Ferran Reverter,Chiara Sabatti,Ashis Saha,Michael Sammeth,Alexandra J. Scott,Andrey A. Shabalin,Reza Sodaei,Matthew Stephens,Barbara E. Stranger,Benjamin J. Strober,Jae Hoon Sul,Emily K. Tsang,Sarah Urbut,Martijn van de Bunt,Gao Wang,Xiaoquan Wen,Fred A. Wright,Hualin S. Xi,Esti Yeger-Lotem,Zachary Zappala,Judith B. Zaugg,Yi-Hui Zhou,Joshua M. Akey,Daniel Bates,Joanne Chan,Melina Claussnitzer,Melina Claussnitzer,Kathryn Demanelis,Morgan Diegel,Jennifer A. Doherty,Andrew P. Feinberg,Marian S. Fernando,Jessica Halow,Kasper D. Hansen,Eric Haugen,Peter Hickey,Lei Hou,Lei Hou,Farzana Jasmine,Ruiqi Jian,Lihua Jiang,Audra K. Johnson,Rajinder Kaul,Manolis Kellis,Manolis Kellis,Muhammad G. Kibriya,Kristen Lee,Jin Billy Li,Qin Li,Jessica Lin,Jessica Lin,Shin Lin,Shin Lin,Sandra Linder,Caroline Linke,Yaping Liu,Yaping Liu,Matthew T. Maurano,Benoit Molinie,Jemma Nelson,Fidencio J. Neri,Yongjin Park,Yongjin Park,Brandon L. Pierce,Nicola J. Rinaldi,Nicola J. Rinaldi,Lindsay F. Rizzardi,Richard Sandstrom,Andrew D. Skol,Kevin S. Smith,Michael Snyder,John A. Stamatoyannopoulos,Hua Tang,Li Wang,Meng Wang,Nicholas Van Wittenberghe,Fan Wu,Rui Zhang,Concepcion R. Nierras,Philip A. Branton,Latarsha J. Carithers,Ping Guan,Helen M. Moore,Abhi Rao,Jimmie B. Vaught,Sarah E. Gould,Nicole C. Lockart,Casey Martin,Jeffery P. Struewing,Simona Volpi,Anjené M. Addington,Susan E. Koester,A. Roger Little,Lori E. Brigham,Richard Hasz,Marcus Hunter,Christopher Johns,Mark H. Johnson,Gene Kopen,William F. Leinweber,John T. Lonsdale,Alisa McDonald,Bernadette Mestichelli,Kevin Myer,Brian Roe,Michael F. Salvatore,Saboor Shad,Jeffrey A. Thomas,Gary Walters,Michael Washington,Joseph Wheeler,Jason Bridge,Barbara A. Foster,Bryan Gillard,Ellen Karasik,Rachna Kumar,Mark Miklos,Michael T. Moser,Scott D. Jewell,Robert G. Montroy,Daniel C. Rohrer,Dana R. Valley,David A. Davis,Deborah C. Mash,Anita H. Undale,Anna M. Smith,David E. Tabor,Nancy Roche,Jeffrey McLean,Negin Vatanian,Karna Robinson,Leslie H. Sobin,Mary Barcus,Kimberly M. Valentino,Liqun Qi,Steven Hunter,Pushpa Hariharan,Shilpi Singh,Ki Sung Um,Takunda Matose,Maria M. Tomaszewski,Laura Barker,Maghboeba Mosavel,Laura A. Siminoff,Heather M. Traino,Paul Flicek,Thomas Juettemann,Magali Ruffier,Dan Sheppard,Kieron Taylor,Stephen J. Trevanion,Daniel R. Zerbino,Brian Craft,Mary Goldman,Maximilian Haeussler,W. James Kent,Christopher Lee,Benedict Paten,Kate R. Rosenbloom,John Vivian,Jingchun Zhu,Dan L. Nicolae,Nancy J. Cox,Hae Kyung Im +263 more
TL;DR: A mathematical expression is derived to compute PrediXcan results using summary data, and the effects of gene expression variation on human phenotypes in 44 GTEx tissues and >100 phenotypes are investigated.
Journal ArticleDOI
Design and anticipated outcomes of the eMERGE-PGx project: a multicenter pilot for preemptive pharmacogenomics in electronic health record systems.
Laura J. Rasmussen-Torvik,Sarah C. Stallings,Adam S. Gordon,Berta Almoguera,Melissa A. Basford,Suzette J. Bielinski,Ariel Brautbar,Murray H. Brilliant,David Carrell,John Connolly,David R. Crosslin,Kimberly F. Doheny,Carlos J. Gallego,Omri Gottesman,Daniel Seung Kim,Kathleen A. Leppig,Rongling Li,Simon Lin,Shannon Manzi,Ana R. Mejia,Jennifer A. Pacheco,Vivian Pan,Jyotishman Pathak,Cassandra Perry,Josh F. Peterson,Cynthia A. Prows,James D. Ralston,Luke V. Rasmussen,Marylyn D. Ritchie,Senthilkumar Sadhasivam,Senthilkumar Sadhasivam,Stuart A. Scott,Maureen E. Smith,Aida Vega,Alexander A. Vinks,Alexander A. Vinks,Simona Volpi,Wendy A. Wolf,Erwin P. Bottinger,Rex L. Chisholm,Christopher G. Chute,Jonathan L. Haines,John B. Harley,John B. Harley,Brendan J. Keating,Ingrid A. Holm,Ingrid A. Holm,Iftikhar J. Kullo,Gail P. Jarvik,Eric B. Larson,Teri A. Manolio,Catherine A. McCarty,Deborah A. Nickerson,Steven E. Scherer,Marc S. Williams,Dan M. Roden,Joshua C. Denny +56 more
TL;DR: The design and initial implementation of the eMERGE‐PGx project is described, including site‐specific project implementation and anticipated products, including genetic variant and phenotype data repositories, novel variant association studies, clinical decision support modules, clinical and process outcomes, approaches to managing incidental findings, and patient and clinician education methods.