Article

VarPPUD: Variant post prioritization developed for undiagnosed genetic disorders

2024-04-19

Abstract excerpt

Rare and ultra-rare genetic conditions are estimated to impact nearly 1 in 17 people worldwide, yet accurately pinpointing the diagnostic variants underlying each of these conditions remains a formidable challenge. Because comprehensive, in vivo functional assessment of all possible genetic variants is infeasible, clinicians instead consider in silico variant pathogenicity predictions to distinguish plausibly dise...

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Literature Corpus work: f283d7d8-d690-5d47-8a48-c1acba57f040
DOI: 10.1101/2024.04.15.24305876

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