Author

James S. Dooley

University College LondonORCID 0000-0002-9459-5572Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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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

Daniel F. WallaceiD· 1 shared

Activity by Year

2020-2020 · peak 1/yr

1 paper

Recent·Most cited

ATP7B variant penetrance explains differences between genetic and clinical prevalence estimates for Wilson disease

Daniel F. Wallace, James S. Dooley

The paper estimates Wilson disease prevalence by analyzing ATP7B variant frequencies and penetrance, finding discrepancies between genetic and clinical prevalence due to variant penetrance differences.

Human Genetics · Apr 4, 2020Peer-reviewedGenetics