MSIsensor-pro: Fast, Accurate, and Matched-normal-sample-free Detection of Microsatellite Instability.

ABSTRACT: Microsatellite instability (MSI) is a key biomarker for cancer therapy and prognosis. Traditional experimental assays are laborious and time-consuming, and next-generation sequencing-based computational methods do not work on leukemia samples, paraffin-embedded samples, or patient-derived xenografts/organoids, due to the requirement of matched normal samples. Herein, we developed MSIsensor-pro, an open-source single sample MSI scoring method for research and clinical applications. MSIsensor-pro introduces a multinomial distribution model to quantify polymerase slippages for each tumor sample and a discriminative site selection method to enable MSI detection without matched normal samples. We demonstrate that MSIsensor-pro is an ultrafast, accurate, and robust MSI calling method. Using samp

SUBMITTER: Jia P 

PROVIDER: S-EPMC7393535 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature