Article

Benchmarking Computational Methods for Estimating the Pathogenicity of Wilson’s Disease Mutations

2019-09-25

Abstract excerpt

Genetic variations in the gene encoding the copper-transport protein ATP7B are the primary cause of Wilson’s disease. Controversially, clinical prevalence seems much smaller than prevalence estimated by genetic screening tools, causing fear that many people are undiagnosed although early diagnosis and treatment is essential. To address this issue, we benchmarked 16 state-of-the-art computational disease-prediction...

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Literature Corpus work: 503a17bc-2774-5ed0-bd33-e92a8ae5c5c9
DOI: 10.1101/780924

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