Author

Daniel G MacArthur

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetics· 2 Genomics· 2

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 3 Assay:whole-exome sequencing· 3 Research Focus:variant calling· 2 Research Focus:variant effect prediction· 2 Research Focus:database / resource· 1 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1

Frequent Co-Authors

Kaitlin E Samocha· 2 shared Konrad J Karczewski· 2 shared Mark J Daly· 2 shared Monkol LekiD· 2 shared Anis Memon· 1 shared Anne H ODonnell-Luria· 1 shared Anneke Seller· 1 shared Ashwin Ananthakrishnan· 1 shared

Activity by Year

2015-2017 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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2 shared papersGenomics

Kaitlin E Samocha

Mutual co-authors in cluster

Author profile →

4 papers

Recent·Most cited

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

Roddy Walsh, Kate Thomson, James S Ware, Birgit H Funke, Jessica Woodley, Karen J McGuire, Francesco Mazzarotto, Edward Blair, Anneke Seller, Jenny C Taylor, Eric V Minikel, Exome Aggregation Consortium, Daniel G MacArthur, Martin Farrall, Stuart A Cook, Hugh C Watkins

The paper reassesses the pathogenicity of Mendelian genes by comparing rare variation frequencies between cardiomyopathy cases and large reference datasets, identifying false positives and overly conservative variant assessments.

Genetics in Medicine · Feb 1, 2017Peer-reviewedGenetics

The ExAC Browser: Displaying reference data information from over 60,000 exomes

Konrad J Karczewski, Ben Weisburd, Brett Thomas, Douglas M Ruderfer, David Kavanagh, Tymor Hamamsy, Monkol Lek, Kaitlin E Samocha, Beryl B Cummings, Daniel Birnbaum, The Exome Aggregation Consortium, Mark J Daly, Daniel G MacArthur

The paper introduces an open-source browser for displaying genetic variation data from 60,706 exomes, focusing on variant interpretation and gene function.

Nucleic Acids Research · Nov 28, 2016Peer-reviewedGenomics

A protein truncating R179X variant in RNF186 confers protection against ulcerative colitis

Manuel A Rivas, Daniel Graham, Patrick Sulem, Christine Stevens, Nicole Desch, Philippe Goyette, Daniel Gudbjartsson, Ingileif Jonsdottir, Unnur Thorsteinsdottir, Frauke Degenhardt, Soren Mucha, Mitja I Kurki, Dalin Li, Mauro D'Amato, Vito Annese, , Steve

The paper identifies a protein truncating variant in RNF186 that protects against ulcerative colitis by reducing disease risk.

Nature Communications · Aug 9, 2016Peer-reviewedGenetics

Human knockouts in a cohort with a high rate of consanguinity

Danesh Saleheen, Pradeep Natarajan, Wei Zhao, Asif Rasheed, Sumeet Khetarpal, Hong-Hee Won, Konrad J Karczewski, Anne H ODonnell-Luria, Kaitlin E Samocha, Namrata Gupta, Mozzam Zaidi, Maria Samuel, Atif Imran, Shahid Abbas, Faisal Majeed, , Sekar Kathiresan

The paper identifies homozygous null mutations in 961 genes in a consanguineous Pakistani cohort and reports their phenotypic consequences.

bioRxiv · Nov 12, 2015Genomics