Performance evaluation for rapid detection of pan-cancer microsatellite instability with MANTIS.

ABSTRACT: In current clinical practice, microsatellite instability (MSI) and mismatch repair deficiency detection is performed with MSI-PCR and immunohistochemistry. Recent research has produced several computational tools for MSI detection with next-generation sequencing (NGS) data; however a comprehensive analysis of computational methods has not yet been performed. In this study, we introduce a new MSI detection tool, MANTIS, and demonstrate its favorable performance compared to the previously published tools mSINGS and MSISensor. We evaluated 458 normal-tumor sample pairs across six cancer subtypes, testing classification performance on variable numbers of target loci ranging from 10 to 2539. All three computational methods were found to be accurate, with MANTIS exhibiting the highest accuracy w

SUBMITTER: Kautto EA 

PROVIDER: S-EPMC5352334 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature