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Article

A likelihood-based approach to assessing frequency of pathogenicity among variants of unknown significance in susceptibility genes.

Statistics in medicine - 10 Feb 2021

Yang Yunqi, Hong Christine, Liang Jane W, Gruber Stephen, Parmigiani Giovanni, Idos Gregory, Braun Danielle

Abstract excerpt

Commercialized multigene panel testing brings unprecedented opportunities to understand germline genetic contributions to hereditary cancers. Most genetic testing companies classify the pathogenicity of variants as pathogenic, benign, or variants of unknown significance (VUSs). The unknown pathogenicity of VUSs poses serious challenges to clinical decision-making. This study aims to assess the frequency of VUSs...

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PMID: 33120437
DOI: 10.1002/sim.8791

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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