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Article

Comparison of Pathogenicity Prediction Tools on Somatic Variants.

The Journal of molecular diagnostics : JMD - 1 Dec 2020

Suybeng Voreak, Koeppel Florence, Harlé Alexandre, Rouleau Etienne

Abstract excerpt

Genomic sequencing is increasingly used in managing patients with cancer. Interpretation of somatic variants and their pathogenicity is often complex. Pathogenicity prediction tools are commonly used as part of the expert interpretation of somatic variants, but most of these tools were initially developed for germline variants. Our aim was to benchmark their performance for somatic variants. A gold standard list...

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PMID: 33011441
DOI: 10.1016/j.jmoldx.2020.08.007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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