Author

Exome Aggregation Consortium

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

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Genetics· 2 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Assay:whole-exome sequencing· 3 Research Focus:variant calling· 2 Research Focus:gene regulatory network inference· 1 Research Focus:GWAS / association mapping· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

James Zou· 2 shared Kaitlin Samocha· 2 shared Konrad Karczewski· 2 shared Monkol LekiD· 2 shared Adam Kiezun· 1 shared Ami Levy Moonshine· 1 shared Andrew Hill· 1 shared Anne O'Donnell-Luria· 1 shared

Activity by Year

2015-2017 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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2 shared papersGenomics

James Zou

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3 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

Analysis of protein-coding genetic variation in 60,706 humans

Exome Aggregation Consortium, Monkol Lek, Konrad Karczewski, Eric Minikel, Kaitlin Samocha, Eric Banks, Timothy Fennell, Anne O'Donnell-Luria, James Ware, Andrew Hill, Beryl Cummings, Taru Tukiainen, Daniel Birnbaum, Jack Kosmicki, Laramie Duncan, , Douglas

This paper analyzes protein-coding genetic variation in 60,706 humans to catalog diversity, assess pathogenicity, and identify genes under strong selection.

Nature · Aug 17, 2016Peer-reviewedGenomics

Quantifying the unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects

James Zou, Gregory Valiant, Paul Valiant, Konrad Karczewski, Siu On Chan, Kaitlin Samocha, Monkol Lek, Exome Aggregation Consortium, Shamil Sunyaev, Mark Daly, Daniel MacArthur

bioRxiv · Nov 7, 2015Genetics