A
Adam Kiezun
Researcher at Broad Institute
Publications - 59
Citations - 22973
Adam Kiezun is an academic researcher from Broad Institute. The author has contributed to research in topics: Exome & Germline. The author has an hindex of 34, co-authored 59 publications receiving 20255 citations. Previous affiliations of Adam Kiezun include Massachusetts Institute of Technology & Brigham and Women's Hospital.
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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
Mutational heterogeneity in cancer and the search for new cancer-associated genes
Michael S. Lawrence,Petar Stojanov,Petar Stojanov,Paz Polak,Paz Polak,Paz Polak,Gregory V. Kryukov,Gregory V. Kryukov,Gregory V. Kryukov,Kristian Cibulskis,Andrey Sivachenko,Scott L. Carter,Chip Stewart,Craig H. Mermel,Craig H. Mermel,Steven A. Roberts,Adam Kiezun,Peter S. Hammerman,Peter S. Hammerman,Aaron McKenna,Aaron McKenna,Yotam Drier,Lihua Zou,Alex H. Ramos,Trevor J. Pugh,Trevor J. Pugh,Nicolas Stransky,Elena Helman,Elena Helman,Jaegil Kim,Carrie Sougnez,Lauren Ambrogio,Elizabeth Nickerson,Erica Shefler,Maria L. Cortes,Daniel Auclair,Gordon Saksena,Douglas Voet,Michael S. Noble,Daniel DiCara,Pei Lin,Lee Lichtenstein,David I. Heiman,Timothy Fennell,Marcin Imielinski,Marcin Imielinski,Bryan Hernandez,Eran Hodis,Eran Hodis,Sylvan C. Baca,Sylvan C. Baca,Austin M. Dulak,Austin M. Dulak,Jens G. Lohr,Jens G. Lohr,Dan A. Landau,Dan A. Landau,Dan A. Landau,Catherine J. Wu,Jorge Melendez-Zajgla,Alfredo Hidalgo-Miranda,Amnon Koren,Amnon Koren,Steven A. McCarroll,Steven A. McCarroll,Jaume Mora,Ryan S. Lee,Ryan S. Lee,Brian D. Crompton,Brian D. Crompton,Robert C. Onofrio,Melissa Parkin,Wendy Winckler,Kristin G. Ardlie,Stacey Gabriel,Charles W. M. Roberts,Charles W. M. Roberts,Jaclyn A. Biegel,Kimberly Stegmaier,Kimberly Stegmaier,Kimberly Stegmaier,Adam J. Bass,Adam J. Bass,Levi A. Garraway,Levi A. Garraway,Matthew Meyerson,Matthew Meyerson,Todd R. Golub,Dmitry A. Gordenin,Shamil R. Sunyaev,Shamil R. Sunyaev,Shamil R. Sunyaev,Eric S. Lander,Eric S. Lander,Eric S. Lander,Gad Getz,Gad Getz +96 more
TL;DR: A fundamental problem with cancer genome studies is described: as the sample size increases, the list of putatively significant genes produced by current analytical methods burgeons into the hundreds and the list includes many implausible genes, suggesting extensive false-positive findings that overshadow true driver events.
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.
Journal ArticleDOI
An APOBEC cytidine deaminase mutagenesis pattern is widespread in human cancers
Steven A. Roberts,Michael S. Lawrence,Leszek J. Klimczak,Sara A. Grimm,David C. Fargo,Petar Stojanov,Adam Kiezun,Gregory V. Kryukov,Gregory V. Kryukov,Scott L. Carter,Gordon Saksena,Shawn F. Harris,Ruchir R. Shah,Michael A. Resnick,Gad Getz,Gad Getz,Dmitry A. Gordenin +16 more
TL;DR: It is shown that throughout cancer genomes APOBEC-mediated mutagenesis is pervasive and correlates withAPOBEC mRNA levels, and that ubiquitous APOBec-mediated Mutagenesis are carcinogenic.
Journal ArticleDOI
The genetic landscape of high-risk neuroblastoma
Trevor J. Pugh,Olena Morozova,Edward F. Attiyeh,Edward F. Attiyeh,Shahab Asgharzadeh,Shahab Asgharzadeh,Jun S. Wei,Daniel Auclair,Scott L. Carter,Kristian Cibulskis,Megan Hanna,Megan Hanna,Adam Kiezun,Jaegil Kim,Michael S. Lawrence,Lee Lichenstein,Aaron McKenna,Chandra Sekhar Pedamallu,Chandra Sekhar Pedamallu,Alex H. Ramos,Alex H. Ramos,Erica Shefler,Andrey Sivachenko,Carrie Sougnez,Chip Stewart,Adrian Ally,Inanc Birol,Readman Chiu,Richard Corbett,Martin Hirst,Shaun D. Jackman,Baljit Kamoh,Alireza Hadj Khodabakshi,Martin Krzywinski,Allan Lo,Richard A. Moore,Karen Mungall,Jenny Q. Qian,Angela Tam,Nina Thiessen,Yongjun Zhao,Kristina A. Cole,Kristina A. Cole,Maura Diamond,Maura Diamond,Sharon J. Diskin,Sharon J. Diskin,Yael P. Mosse,Yael P. Mosse,Andrew Wood,Andrew Wood,Lingyun Ji,Lingyun Ji,Richard Sposto,Richard Sposto,Thomas C. Badgett,Wendy B. London,Yvonne Moyer,Yvonne Moyer,Julie M. Gastier-Foster,Julie M. Gastier-Foster,Malcolm A. Smith,Jaime M. Guidry Auvil,Daniela S. Gerhard,Michael D. Hogarty,Michael D. Hogarty,Steven J.M. Jones,Eric S. Lander,Stacey Gabriel,Gad Getz,Robert C. Seeger,Robert C. Seeger,Javed Khan,Marco A. Marra,Matthew Meyerson,Matthew Meyerson,John M. Maris +76 more
TL;DR: The authors reported a low median exonic mutation frequency of 0.60 per Mb (0.48 nonsilent) and notably few recurrently mutated genes in high-risk neuroblastoma.