Article
A machine learning approach to optimizing cell-free DNA sequencing panels: with an application to prostate cancer.
BMC cancer - 28 Aug 2020
Cario Clinton L, Chen Emmalyn, Leong Lancelote, Emami Nima C, Lopez Karen, Tenggara Imelda, Simko Jeffry P, Friedlander Terence W, Li Patricia S, Paris Pamela L, Carroll Peter R, Witte John S
Abstract excerpt
BACKGROUND: Cell-free DNA's (cfDNA) use as a biomarker in cancer is challenging due to genetic heterogeneity of malignancies and rarity of tumor-derived molecules. Here we describe and demonstrate a novel machine-learning guided panel design strategy for improving the detection of tumor variants in cfDNA. Using this approach, we first generated a model to classify and score candidate variants for inclusion on a...
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