A machine learning approach to optimizing cell-free DNA sequencing panels: with an application to prostate cancer.

ABSTRACT:

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 prostate cancer targeted sequencing panel. We then used this panel to screen tumor variants from prostate cancer patients with localized disease in both in silico and hybrid capture settings.

Methods

Whole Genome Sequence (WGS) data from 550 prostate tumors was analyzed to build a targeted sequencing panel of single point and small (< 200 bp) indel mutations, which was

SUBMITTER: Cario CL 

PROVIDER: S-EPMC7456018 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature