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Using Machine Learning to Identify True Somatic Variants from Next-Generation Sequencing.

Clinical chemistry - 1 Jan 2020

Wu Chao, Zhao Xiaonan, Welsh Mark, Costello Kellianne, Cao Kajia, Abou Tayoun Ahmad, Li Marilyn, Sarmady Mahdi

Abstract excerpt

BACKGROUND: Molecular profiling has become essential for tumor risk stratification and treatment selection. However, cancer genome complexity and technical artifacts make identification of real variants a challenge. Currently, clinical laboratories rely on manual screening, which is costly, subjective, and not scalable. We present a machine learning-based method to distinguish artifacts from bona fide...

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PMID: 31672855
DOI: 10.1373/clinchem.2019.308213

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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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