Author

Karen J McGuire

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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

Anneke Seller· 1 shared 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

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2017-2017 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Anneke Seller

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1 paper

Recent·Most cited

GeneticsGenetics in MedicinePeer-reviewedFeb 1, 2017

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

Roddy Walsh, Kate Thomson, James S Ware…·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.

DOI 10.1038/gim.2016.90

humanwhole-exome sequencing

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