MIAmS

MIAmS detects microsatellite instability (MSI) and concurrent tumor genome mutations from amplicon-based next-generation sequencing (NGS) of tumor samples to assess DNA mismatch repair deficiency.

Key Features:

• Amplicon NGS analysis: Analyzes amplicon panels derived from tumor samples using next-generation sequencing (NGS).
• MSI detection: Calls microsatellite instability (MSI) from amplicon NGS data as a marker of DNA mismatch repair deficiency.
• Concurrent mutation profiling: Identifies concurrent tumor genome mutations from the same amplicon data.
• No paired normal required: Operates without requiring paired normal tissue for comparison.
• Alternative to multiplex-PCR: Provides an NGS-based alternative to multiplex-PCR length distribution analysis of microsatellites.
• Accuracy and robustness: Reported to provide strong accuracy and robustness in determining MSI status.
• Scalability: Supports scalable analysis for high-throughput amplicon panels.

Scientific Applications:

• MSI testing in oncology: Determines MSI status as a molecular marker of DNA mismatch repair deficiency across cancer types.
• Integrated tumor profiling: Enables simultaneous MSI and somatic mutation detection for tumor genetic characterization.
• Prognostic and therapeutic biomarker: Provides MSI and mutation data that inform prognostic assessments and therapeutic decision-making in personalized cancer treatment.
• Research and clinical use: Applicable for both cancer genomics research and clinical MSI diagnostics.

Methodology:

Tags MSI status directly from amplicon NGS data of tumor samples and analyzes amplicon panels to determine microsatellite status and concurrent tumor genome mutations.