MSIsensor-pro

MSIsensor-pro detects microsatellite instability (MSI) from next-generation sequencing data to quantify polymerase slippage and support MSI-based cancer research and diagnostics.

Key Features:

• Versatile Data Input: Accepts whole genome sequencing (WGS), whole exome sequencing (WES), and target region (panel) sequencing data as input.
• Multinomial Distribution Model: Uses a multinomial distribution model to quantify polymerase slippages at microsatellite loci.
• Discriminative Sites Selection: Selects discriminative microsatellite sites to enable MSI detection without matched normal samples.
• Performance and Efficiency: Has been reported to outperform leading methods in accuracy and computational cost and to operate across varying sequencing depths and tumor purities.

Scientific Applications:

• Cancer Research: Enables detection and quantification of MSI as a biomarker in cancer studies, including colorectal cancer.
• Clinical Diagnostics: Supports MSI-based diagnostics and application when matched normal samples are unavailable, informing patient stratification and personalized treatment strategies.

Methodology:

Implements a multinomial distribution model to quantify polymerase slippages and uses a discriminative-site selection method for MSI calling from WGS, WES, and panel sequencing data.