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
Health and population effects of rare gene knockouts in adult humans with related parents.
Vagheesh M. Narasimhan,Karen A. Hunt,Dan Mason,Christopher L. Baker,Konrad J. Karczewski,Konrad J. Karczewski,Michael R. Barnes,Anthony H. Barnett,Christopher M. Bates,Srikanth Bellary,Nicholas A. Bockett,Kristina Giorda,Chris Griffiths,Harry Hemingway,Jia Zhilong,Ann M. Kelly,Hajrah A. Khawaja,Monkol Lek,Monkol Lek,Shane A. McCarthy,Rosie McEachan,Anne H. O’Donnell-Luria,Anne H. O’Donnell-Luria,Kenneth Paigen,Constantinos A. Parisinos,Eamonn Sheridan,Laura Southgate,Louise Tee,Mark G. Thomas,Yali Xue,Michael Schnall-Levin,Petko M. Petkov,Chris Tyler-Smith,Eamonn R. Maher,Eamonn R. Maher,Richard C. Trembath,Richard C. Trembath,Daniel G. MacArthur,Daniel G. MacArthur,John Wright,Richard Durbin,David A. van Heel +41 more
TL;DR: The results show that meiotic recombination sites are localized away from PRDM9-dependent hotspots, Thus, natural LOF variants inform on essential genetic loci and demonstratePRDM9 redundancy in humans.
Journal ArticleDOI
Effect of predicted protein-truncating genetic variants on the human transcriptome
Manuel A. Rivas,Matti Pirinen,Donald F. Conrad,Monkol Lek,Emily K. Tsang,Konrad J. Karczewski,Julian Maller,Kimberly R. Kukurba,David S. DeLuca,Menachem Fromer,Pedro G. Ferreira,Kevin S. Smith,Rui Zhang,Fengmei Zhao,Eric Banks,Ryan Poplin,Douglas M. Ruderfer,Shaun Purcell,Taru Tukiainen,Eric Vallabh Minikel,Peter D. Stenson,David Neil Cooper,Katharine H. Huang,Timothy J. Sullivan,Jared L. Nedzel,Carlos Bustamante,Jin Billy Li,Mark J. Daly,Roderic Guigó,Peter Donnelly,Kristin G. Ardlie,Michael Sammeth,Emmanouil T. Dermitzakis,Mark I. McCarthy,Stephen B. Montgomery,Tuuli Lappalainen,Daniel G. MacArthur,Daniel G. MacArthur +37 more
TL;DR: The transcriptome effects of protein-truncating variants, a class of variants expected to have profound effects on gene function, are characterized using data from the Genotype-Tissue Expression (GTEx) and Geuvadis projects to illustrate the value of transcriptome data in the functional interpretation of genetic variants.
Journal ArticleDOI
From patients to partners: participant-centric initiatives in biomedical research
Jane Kaye,Liam Curren,Nicholas R. Anderson,Kelly Edwards,Stephanie M. Fullerton,Nadja Kanellopoulou,David Lund,Daniel G. MacArthur,Deborah Mascalzoni,James Shepherd,Patrick L. Taylor,Sharon F. Terry,Stefan F. Winter +12 more
TL;DR: An overview of this rapidly moving field of Participant-centred initiatives is given by providing an analysis of the different PCI approaches, as well as the benefits and challenges of implementing PCIs.
Journal ArticleDOI
Rare Complete Knockouts in Humans: Population Distribution and Significant Role in Autism Spectrum Disorders
Elaine T. Lim,Elaine T. Lim,Soumya Raychaudhuri,Soumya Raychaudhuri,Stephen Sanders,Christine Stevens,Aniko Sabo,Daniel G. MacArthur,Daniel G. MacArthur,Benjamin M. Neale,Benjamin M. Neale,Andrew Kirby,Andrew Kirby,Douglas M. Ruderfer,Douglas M. Ruderfer,Douglas M. Ruderfer,Menachem Fromer,Menachem Fromer,Menachem Fromer,Monkol Lek,Monkol Lek,Li Liu,Jason Flannick,Jason Flannick,Stephan Ripke,Stephan Ripke,Uma Nagaswamy,Donna M. Muzny,Jeffrey G. Reid,Alicia Hawes,Irene Newsham,Yuanqing Wu,Lora Lewis,Huyen Dinh,Shannon Gross,Li-San Wang,Chiao-Feng Lin,Otto Valladares,Stacey Gabriel,Mark A. DePristo,David Altshuler,David Altshuler,Shaun Purcell,Shaun Purcell,Shaun Purcell,Matthew W. State,Eric Boerwinkle,Eric Boerwinkle,Joseph D. Buxbaum,Edwin H. Cook,Richard A. Gibbs,Gerard D. Schellenberg,James S. Sutcliffe,Bernie Devlin,Kathryn Roeder,Mark J. Daly,Mark J. Daly +56 more
TL;DR: Results provide compelling evidence that rare autosomal and X chromosome complete gene knockouts are important inherited risk factors for ASD.
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.