D
Daniel G. MacArthur
Researcher at Broad Institute
Publications - 281
Citations - 73196
Daniel G. MacArthur is an academic researcher from Broad Institute. The author has contributed to research in topics: Population & Exome sequencing. The author has an hindex of 80, co-authored 265 publications receiving 54145 citations. Previous affiliations of Daniel G. MacArthur include Harvard University & Massachusetts Institute of Technology.
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Journal ArticleDOI
Origins and functional impact of copy number variation in the human genome
Donald F. Conrad,Dalila Pinto,Richard Redon,Richard Redon,Lars Feuk,Lars Feuk,Omer Gokcumen,Yujun Zhang,Jan Aerts,T. Daniel Andrews,Chris P. Barnes,Peter J. Campbell,Tomas W Fitzgerald,Min Hu,Chun Hwa Ihm,K. Kristiansson,Daniel G. MacArthur,Jeffrey R. MacDonald,Ifejinelo Onyiah,Andy Wing Chun Pang,Samuel Robson,Kathy Stirrups,Armand Valsesia,Klaudia Walter,John Wei,Chris Tyler-Smith,Nigel P. Carter,Charles Lee,Stephen W. Scherer,Stephen W. Scherer,Matthew E. Hurles +30 more
TL;DR: It is concluded that the heritability void left by genome-wide association studies will not be accounted for by common CNVs, and 30 loci with CNVs that are candidates for influencing disease susceptibility are identified.
Journal ArticleDOI
Transcriptome and genome sequencing uncovers functional variation in humans
Tuuli Lappalainen,Michael Sammeth,Marc R. Friedländer,Peter A C 't Hoen,Jean Monlong,Manuel A. Rivas,Mar Gonzàlez-Porta,Natalja Kurbatova,Thasso Griebel,Pedro G. Ferreira,Matthias Barann,Thomas Wieland,Liliana Greger,Maarten van Iterson,Jonas Carlsson Almlöf,Paolo Ribeca,Irina Pulyakhina,Daniela Esser,Thomas Giger,Andrew Tikhonov,Marc Sultan,Gabrielle Bertier,Daniel G. MacArthur,Daniel G. MacArthur,Monkol Lek,Monkol Lek,Esther Lizano,Henk P. J. Buermans,Ismael Padioleau,Ismael Padioleau,Thomas Schwarzmayr,Olof Karlberg,Halit Ongen,Halit Ongen,Helena Kilpinen,Helena Kilpinen,Sergi Beltran,Marta Gut,Katja Kahlem,Vyacheslav Amstislavskiy,Oliver Stegle,Matti Pirinen,Stephen B. Montgomery,Stephen B. Montgomery,Peter Donnelly,Mark I. McCarthy,Mark I. McCarthy,Paul Flicek,Tim M. Strom,Hans Lehrach,Stefan Schreiber,Ralf Sudbrak,Angel Carracedo,Stylianos E. Antonarakis,Robert Häsler,Ann-Christine Syvänen,Gert-Jan B. van Ommen,Alvis Brazma,Thomas Meitinger,Philip Rosenstiel,Roderic Guigó,Ivo Gut,Xavier Estivill,Emmanouil T. Dermitzakis,Emmanouil T. Dermitzakis +64 more
TL;DR: Se sequencing and deep analysis of messenger RNA and microRNA from lymphoblastoid cell lines of 462 individuals from the 1000 Genomes Project—the first uniformly processed high-throughput RNA-sequencing data from multiple human populations with high-quality genome sequences discover extremely widespread genetic variation affecting the regulation of most genes.
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
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
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,Princy E Parsana,Elise Flynn,Laure Fresard,Eric R Gaamzon,Andrew R Hamel,Yuan He,Farhad Hormozdiari,Pejman Mohammadi,Manuel Muñoz-Aguirre,YoSon Park,Ashis Saha,Ayellet V Segrć,Benjamin J Strober,Xiaoquan Wen,Valentin Wucher,Sayantan Das,D Garrido-Martin,Robert E Handsaker,Paul J Hoffman,Seva Kashin,Alan Kwong,Xiao Li,Daniel G. MacArthur,John M. Rouhana,Matthew Stephens,Ellen Todres,Ana Viñuela,Gao Wang,Yuxin Zou,Christopher D. Brown,Nancy Cox,Emmanouil T. Dermitzakis,Barbara E. Engelhardt,Gad Getz,Roderic Guigo,Stephen B. Montgomery,Barbara E Stranger,Hae Kyung Im,Alexis Battle,Kristin G. Ardlie,Lappalainen T +50 more
TL;DR: Analysis of the v8 data provides insights into the tissue-specificity of genetic effects, and shows that cell type composition is a key factor in understanding gene regulatory mechanisms in human tissues.