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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Author Correction: Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals.
Nicola Whiffin,Genome Aggregation Database Production Team,Konrad J. Karczewski,Xiaolei Zhang,Xiaolei Zhang,Sonia Chothani,Miriam J. Smith,D. Gareth Evans,Angharad M. Roberts,Angharad M. Roberts,Nicholas M Quaife,Nicholas M Quaife,Sebastian Schafer,Owen J. L. Rackham,Jessica Alföldi,Jessica Alföldi,Anne H. O’Donnell-Luria,Anne H. O’Donnell-Luria,Anne H. O’Donnell-Luria,Laurent C. Francioli,Laurent C. Francioli,Stuart A. Cook,Stuart A. Cook,Paul J.R. Barton,Paul J.R. Barton,Daniel G. MacArthur,James S. Ware,James S. Ware,James S. Ware +28 more
Posted ContentDOI
Differences in 5’untranslated regions highlight the importance of translational regulation of dosage sensitive genes
Elston N D'Souza,Frederik H. Lassen,Sonia Chothani,Owen J. L. Rackham,Sebastian Schafer,Julie L Aspden,Daniel G. MacArthur,Nicola Whiffin +7 more
TL;DR: In this article , the authors investigate the role of 5'UTR length and complexity in post-transcriptional regulation, and show that 5'UTR length correlates with gene dosage sensitivity.
Posted ContentDOI
Phenotype and genetic analysis of data collected within the first year of NeuroDev: A Pilot Study
Patricia Kipkemoi,Heesu Ally Kim,Björn U. Christ,Emily O'Heir,J. Allen,Christina Austin-Tse,Samantha Baxter,Harrison Brand,Sam Bryant,Victoria de Menil,Emma Eastman,Serini Murugasen,Alice J. Galvin,Martha Kombe,Beatrice Mkubwa,Pauline Muthoni Mwangi,Collins Kipkoech,Alysia Kern Lovgren,Daniel G. MacArthur,Brigitte L. Melly,Katini Mwangasha,Alicia R. Martin,Lethukuthula L Nkambule,Alba Sanchis-Juan,Moriel Singer-Berk,Michael E. Talkowski,Grace E. VanNoy,C. van der Merwe,Charles R. Newton,Anne H. O’Donnell-Luria,Amina Abubakar,Kirsten A. Donald,Elise B. Robinson +32 more
TL;DR: Results from NeuroDevs first year of data collection are presented, including phenotype data from 206 cases and clinical genetic analysis of 99 parent-child trios, finding that the majority of the cases met criteria for global developmental delay/intellectual disability.
Posted ContentDOI
Insights into dispersed duplications and complex structural mutations from whole genome sequencing 706 families
Christopher W. Whelan,Christopher W. Whelan,Robert E. Handsaker,Robert E. Handsaker,Giulio Genovese,Giulio Genovese,Seva Kashin,Seva Kashin,Monkol Lek,Jason D. Hughes,Joshua McElwee,Michael J. Lenardo,Daniel G. MacArthur,Daniel G. MacArthur,Steven A. McCarroll,Steven A. McCarroll +15 more
TL;DR: A new way to find and characterize genome structural variation by utilizing identity-by-descent (IBD) relationships between siblings together with high-precision measurements of segmental copy number is described, showing that dispersed duplications and mutations can be identified by looking for copy number variants that do not follow these expected inheritance patterns.
Posted ContentDOI
The penetrance of rare variants in cardiomyopathy-associated genes: a cross-sectional approach to estimate penetrance for secondary findings
Kathryn A. McGurk,X. Zhang,Pantazis I. Theotokis,K Thomson,Andrew R. Harper,Rachel Buchan,Erica Mazaika,Elizabeth Ormondroyd,William T. Wright,Daniela Macaya,Chee Jian Pua,Birgit Funke,Daniel G. MacArthur,Sanjay K Prasad,S. Cook,Mona Allouba,Yasmine Aguib,M. Yacoub,Declan P. O'Regan,P.J. Barton,Hugh Watkins,Leonardo Bottolo,J. Ware +22 more
TL;DR: In this paper , a large-scale analysis of patients referred for diagnostic sequencing for hypertrophic cardiomyopathy (HCM; 10,400 cases, 1,340 variants) and dilated cardiocyopathy (DCM; 2,564 cases, 665 variants) using a cross-sectional approach comparing allele frequencies against reference populations is presented.