E
Emma Pierce-Hoffman
Researcher at Broad Institute
Publications - 16
Citations - 16838
Emma Pierce-Hoffman is an academic researcher from Broad Institute. The author has contributed to research in topics: Gene & Genome. The author has an hindex of 8, co-authored 13 publications receiving 12653 citations. Previous affiliations of Emma Pierce-Hoffman include Harvard University & Massachusetts Institute of Technology.
Papers
More filters
Journal ArticleDOI
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek,Konrad J. Karczewski,Konrad J. Karczewski,Eric Vallabh Minikel,Eric Vallabh Minikel,Kaitlin E. Samocha,Eric Banks,Timothy Fennell,Anne H. O’Donnell-Luria,Anne H. O’Donnell-Luria,Anne H. O’Donnell-Luria,James S. Ware,Andrew J. Hill,Andrew J. Hill,Andrew J. Hill,Beryl B. Cummings,Beryl B. Cummings,Taru Tukiainen,Taru Tukiainen,Daniel P. Birnbaum,Jack A. Kosmicki,Laramie E. Duncan,Laramie E. Duncan,Karol Estrada,Karol Estrada,Fengmei Zhao,Fengmei Zhao,James Zou,Emma Pierce-Hoffman,Emma Pierce-Hoffman,Joanne Berghout,David Neil Cooper,Nicole A. Deflaux,Mark A. DePristo,Ron Do,Jason Flannick,Jason Flannick,Menachem Fromer,Laura D. Gauthier,Jackie Goldstein,Jackie Goldstein,Namrata Gupta,Daniel P. Howrigan,Daniel P. Howrigan,Adam Kiezun,Mitja I. Kurki,Mitja I. Kurki,Ami Levy Moonshine,Pradeep Natarajan,Lorena Orozco,Gina M. Peloso,Gina M. Peloso,Ryan Poplin,Manuel A. Rivas,Valentin Ruano-Rubio,Samuel A. Rose,Douglas M. Ruderfer,Khalid Shakir,Peter D. Stenson,Christine Stevens,Brett Thomas,Brett Thomas,Grace Tiao,María Teresa Tusié-Luna,Ben Weisburd,Hong-Hee Won,Dongmei Yu,David Altshuler,David Altshuler,Diego Ardissino,Michael Boehnke,John Danesh,Stacey Donnelly,Roberto Elosua,Jose C. Florez,Jose C. Florez,Stacey Gabriel,Gad Getz,Gad Getz,Stephen J. Glatt,Christina M. Hultman,Sekar Kathiresan,Markku Laakso,Steven A. McCarroll,Steven A. McCarroll,Mark I. McCarthy,Mark I. McCarthy,Dermot P.B. McGovern,Ruth McPherson,Benjamin M. Neale,Benjamin M. Neale,Aarno Palotie,Shaun Purcell,Danish Saleheen,Jeremiah M. Scharf,Pamela Sklar,Patrick F. Sullivan,Patrick F. Sullivan,Jaakko Tuomilehto,Ming T. Tsuang,Hugh Watkins,Hugh Watkins,James G. Wilson,Mark J. Daly,Mark J. Daly,Daniel G. MacArthur,Daniel G. MacArthur +106 more
TL;DR: The aggregation and analysis of high-quality exome (protein-coding region) DNA sequence data for 60,706 individuals of diverse ancestries generated as part of the Exome Aggregation Consortium (ExAC) provides direct evidence for the presence of widespread mutational recurrence.
Journal ArticleDOI
The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski,Laurent C. Francioli,Grace Tiao,Beryl B. Cummings,Jessica Alföldi,Qingbo Wang,Ryan L. Collins,Kristen M. Laricchia,Andrea Ganna,Daniel P. Birnbaum,Laura D. Gauthier,Harrison Brand,Matthew Solomonson,Nicholas A. Watts,Daniel R. Rhodes,Moriel Singer-Berk,Eleina M. England,Eleanor G. Seaby,Jack A. Kosmicki,Raymond K. Walters,Katherine Tashman,Yossi Farjoun,Eric Banks,Timothy Poterba,Arcturus Wang,Cotton Seed,Nicola Whiffin,Jessica X. Chong,Kaitlin E. Samocha,Emma Pierce-Hoffman,Zachary Zappala,Anne H. O’Donnell-Luria,Eric Vallabh Minikel,Ben Weisburd,Monkol Lek,James S. Ware,Christopher Vittal,Irina M. Armean,Louis Bergelson,Kristian Cibulskis,Kristen M. Connolly,Miguel Covarrubias,Stacey Donnelly,Steven Ferriera,Stacey Gabriel,Jeff Gentry,Namrata Gupta,Thibault Jeandet,Diane Kaplan,Christopher Llanwarne,Ruchi Munshi,Sam Novod,Nikelle Petrillo,David Roazen,Valentin Ruano-Rubio,Andrea Saltzman,Molly Schleicher,Jose Soto,Kathleen Tibbetts,Charlotte Tolonen,Gordon Wade,Michael E. Talkowski,Benjamin M. Neale,Mark J. Daly,Daniel G. MacArthur +64 more
TL;DR: A catalogue of predicted loss-of-function variants in 125,748 whole-exome and 15,708 whole-genome sequencing datasets from the Genome Aggregation Database (gnomAD) reveals the spectrum of mutational constraints that affect these human protein-coding genes.
Posted ContentDOI
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek,Konrad J. Karczewski,Eric Vallabh Minikel,Kaitlin E. Samocha,Eric Banks,Timothy Fennell,Anne H. O’Donnell-Luria,James S. Ware,Andrew J. Hill,Beryl B. Cummings,Taru Tukiainen,Daniel P. Birnbaum,Jack A. Kosmicki,Laramie E. Duncan,Karol Estrada,Fengmei Zhao,James Zou,Emma Pierce-Hoffman,David Neil Cooper,Mark A. DePristo,Ron Do,Jason Flannick,Menachem Fromer,Laura D. Gauthier,Jackie Goldstein,Namrata Gupta,Daniel P. Howrigan,Adam Kiezun,Mitja I. Kurki,Ami Levy Moonshine,Pradeep Natarajan,Lorena Orozco,Gina M. Peloso,Ryan Poplin,Manuel A. Rivas,Valentin Ruano-Rubio,Douglas M. Ruderfer,Khalid Shakir,Peter D. Stenson,Christine Stevens,Brett Thomas,Grace Tiao,María Teresa Tusié-Luna,Ben Weisburd,Hong-Hee Won,Dongmei Yu,David Altshuler,Diego Ardissino,Michael Boehnke,John Danesh,Roberto Elosua,Jose C. Florez,Stacey Gabriel,Gad Getz,Christina M. Hultman,Sekar Kathiresan,Markku Laakso,Steven A. McCarroll,Mark I. McCarthy,Dermot P.B. McGovern,Ruth McPherson,Benjamin M. Neale,Aarno Palotie,Shaun Purcell,Danish Saleheen,Jeremiah M. Scharf,Pamela Sklar,Patrick F. Sullivan,Jaakko Tuomilehto,Hugh Watkins,James G. Wilson,Mark J. Daly,Daniel G. MacArthur +72 more
TL;DR: The aggregation and analysis of high-quality exome (protein-coding region) sequence data for 60,706 individuals of diverse ethnicities generated as part of the Exome Aggregation Consortium (ExAC) provides direct evidence for the presence of widespread mutational recurrence.
Posted ContentDOI
Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes
Konrad J. Karczewski,Konrad J. Karczewski,Laurent C. Francioli,Laurent C. Francioli,Grace Tiao,Grace Tiao,Beryl B. Cummings,Beryl B. Cummings,Jessica Alföldi,Jessica Alföldi,Qingbo Wang,Qingbo Wang,Ryan L. Collins,Ryan L. Collins,Kristen M. Laricchia,Kristen M. Laricchia,Andrea Ganna,Andrea Ganna,Andrea Ganna,Daniel P. Birnbaum,Laura D. Gauthier,Harrison Brand,Harrison Brand,Matthew Solomonson,Matthew Solomonson,Nicholas A. Watts,Nicholas A. Watts,Daniel R. Rhodes,Moriel Singer-Berk,Eleanor G. Seaby,Eleanor G. Seaby,Jack A. Kosmicki,Jack A. Kosmicki,Raymond K. Walters,Raymond K. Walters,Katherine Tashman,Katherine Tashman,Yossi Farjoun,Eric Banks,Timothy Poterba,Timothy Poterba,Arcturus Wang,Arcturus Wang,Cotton Seed,Cotton Seed,Nicola Whiffin,Nicola Whiffin,Jessica X. Chong,Kaitlin E. Samocha,Emma Pierce-Hoffman,Zachary Zappala,Zachary Zappala,Anne H. O’Donnell-Luria,Anne H. O’Donnell-Luria,Anne H. O’Donnell-Luria,Eric Vallabh Minikel,Ben Weisburd,Monkol Lek,Monkol Lek,James S. Ware,James S. Ware,Christopher Vittal,Christopher Vittal,Irina M. Armean,Irina M. Armean,Irina M. Armean,Louis Bergelson,Kristian Cibulskis,Kristen M. Connolly,Miguel Covarrubias,Stacey Donnelly,Steven Ferriera,Stacey Gabriel,Jeff Gentry,Namrata Gupta,Thibault Jeandet,Diane Kaplan,Christopher Llanwarne,Ruchi Munshi,Sam Novod,Nikelle Petrillo,David Roazen,Valentin Ruano-Rubio,Andrea Saltzman,Molly Schleicher,Jose Soto,Kathleen Tibbetts,Charlotte Tolonen,Gordon Wade,Michael E. Talkowski,Michael E. Talkowski,Benjamin M. Neale,Benjamin M. Neale,Mark J. Daly,Daniel G. MacArthur,Daniel G. MacArthur +95 more
TL;DR: Using an improved human mutation rate model, human protein-coding genes are classified along a spectrum representing tolerance to inactivation, validate this classification using data from model organisms and engineered human cells, and show that it can be used to improve gene discovery power for both common and rare diseases.
Posted ContentDOI
Regional missense constraint improves variant deleteriousness prediction
Kaitlin E. Samocha,Jack A. Kosmicki,Konrad J. Karczewski,Konrad J. Karczewski,Anne H. O’Donnell-Luria,Anne H. O’Donnell-Luria,Anne H. O’Donnell-Luria,Emma Pierce-Hoffman,Emma Pierce-Hoffman,Daniel G. MacArthur,Daniel G. MacArthur,Neale Bm,Neale Bm,Mark J. Daly,Mark J. Daly +14 more
TL;DR: This work leveraged the exome sequencing data of 60,706 individuals from the Exome Aggregation Consortium (ExAC) dataset to identify sub-genic regions that are depleted of missense variation and used this depletion as part of a novel missense deleteriousness metric named MPC.