Author

Anneke Seller

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Genetics· 1

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Birgit H Funke· 1 shared Daniel G MacArthur· 1 shared Edward Blair· 1 shared Eric V Minikel· 1 shared Exome Aggregation Consortium· 1 shared Francesco MazzarottoiD· 1 shared Hugh C WatkinsiD· 1 shared James S Ware· 1 shared

Activity by Year

2017-2017 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Birgit H Funke

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1 paper

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