MIRMMR

MIRMMR predicts microsatellite instability (MSI) status in cancer samples by integrating DNA methylation profiles and somatic mutation data to classify MSI-high versus MSI-stable.

Key Features:

• Methylation and Mutation Integration: Integrates DNA methylation patterns with somatic mutation data to inform MSI prediction.
• Identification of Genetic Alterations: Highlights specific genetic changes associated with microsatellite instability to aid biomarker analysis.
• Binary MSI Classification: Produces a binary classification of samples as MSI-high or MSI-stable.
• Implementation: Implemented in R.

Scientific Applications:

• Cancer genomics research: Determines MSI status to study genomic instability across cancer samples.
• Prognosis and treatment stratification: Provides MSI calls that can inform prognosis and therapeutic decision-making.
• Biomarker and target discovery: Identifies genetic alterations linked to MSI for exploration of potential biomarkers and therapeutic targets.
• MSI assessment without microsatellite reads: Enables MSI prediction in samples where direct observation of microsatellites is not available.

Methodology:

Integrates DNA methylation and somatic mutation data within a computational classification framework to assign samples as MSI-high or MSI-stable.