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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Systematic evaluation of genome sequencing as a first-tier diagnostic test for prenatal and pediatric disorders
Chelsea Lowther,Chelsea Lowther,Elise Valkanas,Elise Valkanas,Jessica L. Giordano,Harold Z. Wang,Harold Z. Wang,Benjamin Currall,Benjamin Currall,Kathryn O’Keefe,Kathryn O’Keefe,Ryan L. Collins,Ryan L. Collins,Xuefang Zhao,Xuefang Zhao,Christina Austin-Tse,Emily Evangelista,Vimla S. Aggarwal,Diane Lucente,Laura D. Gauthier,Charlotte Tolonen,Nareh Sahakian,Joon Yong An,Shan Dong,Mary E. Norton,Tippi C. MacKenzie,Bernie Devlin,Kelly L. Gilmore,Bradford C. Powell,Alicia Brandt,Francesco Vetrini,Michelle DiVito,David Goldstein,Stephen Sanders,Daniel G. MacArthur,Jennelle C. Hodge,Anne H. O’Donnell-Luria,Anne H. O’Donnell-Luria,Anne H. O’Donnell-Luria,Heidi L. Rehm,Heidi L. Rehm,Neeta L. Vora,Brynn Levy,Harrison Brand,Harrison Brand,Ronald J. Wapner,Michael E. Talkowski,Michael E. Talkowski +47 more
TL;DR: It is observed that whole genome sequencing was sensitive to the detection of all classes of pathogenic variation captured by three conventional tests, and diagnostic yields from WGS were superior to any individual genetic test, warranting further evaluation as a first-tier diagnostic approach.
Posted ContentDOI
New mutations, old statistical challenges
Jeffrey C. Barrett,Joseph D. Buxbaum,David J. Cutler,Mark J. Daly,Bernie Devlin,Jacob Gratten,Matthew E. Hurles,Jack A. Kosmicki,Eric S. Lander,Daniel G. MacArthur,Neale Bm,Kathryn Roeder,Peter M. Visscher,Naomi R. Wray +13 more
TL;DR: Based on targeted sequencing of 208 genes in 11,730 neurodevelopmental disorder cases, Stessman et al. report the identification of 91 genes associated with autism spectrum disorders, intellectual disability, and developmental delay-including what they characterize as 38 novel genes, not previously reported as connected with these diseases.
Posted ContentDOI
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population
Manuel A. Rivas,Jukka Koskela,Hailiang Huang,Christine Stevens,Brandon E Avila,Talin Haritunians,Benjamin M. Neale,Mitja I. Kurki,Andrea Ganna,Daniel B. Graham,Benjamin Glaser,Inga Peter,Gil Atzmon,Nir Barzilai,Adam P. Levine,Elena R. Schiff,Nikolas Pontikos,Ben Weisburd,Konrad J. Karczewski,Eric Vallabh Minikel,Britt-Sabina Petersen,Laurent Beaugerie,Philippe Seksik,Jacques Cosnes,Stefan Schreiber,Bernd Bokemeyer,Johannes Bethge,Graham A. Heap,Tariq Ahmad,Vincent Plagnol,Anthony W. Segal,Stephan R. Targan,Dan Turner,Päivi Saavalainen,Martti Färkkilä,Kimmo Kontula,Matti Pirinen,Aarno Palotie,Steven R. Brant,Richard H. Duerr,Mark S. Silverberg,John D. Rioux,Rinse K. Weersma,Andre Franke,Daniel G. MacArthur,Chaim Jalas,Harry Sokol,Ramnik J. Xavier,Ann E. Pulver,Judy H. Cho,Dermot P.B. McGovern,Mark J. Daly +51 more
TL;DR: The results suggest coordinated selection in AJ population for higher CD risk alleles in general and illustrate the value of exome sequencing data in case-control studies along with reference data sets like ExAC to pinpoint genetic variation that contributes to variable disease predisposition across populations.
Journal ArticleDOI
Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development.
Julie Jurgens,Brenda J. Barry,Gabrielle Lemire,Wai-Man Chan,Mary C. Whitman,Mary C. Whitman,Sherin Shaaban,Caroline D. Robson,Sarah MacKinnon,Eleina M. England,Hugh J. McMillan,Christopher Kelly,Brandon M Pratt,Brandon M Pratt,Anne H. O’Donnell-Luria,Anne H. O’Donnell-Luria,Anne H. O’Donnell-Luria,Daniel G. MacArthur,Kym M. Boycott,David G. Hunter,David G. Hunter,Elizabeth C. Engle +21 more
TL;DR: In this article, the authors used exome sequencing (ES) and genome sequencing (GS) to identify three unrelated probands with CFEOM who harbored novel heterozygous TUBA1A missense variants c.1216C>G, p.(His406Asp); c.467G>A, p(Arg156His); and c.1193T>G and p.(Met398Arg).