MIAmS: microsatellite instability detection on NGS amplicons data. MIAmS

Microsatellite instability (MSI) is a molecular marker of DNA mismatch repair deficiency frequently at play in oncogenesis. MSI testing is used for diagnostic, prognostic and therapeutic purposes in several cancers. The current gold standard analysis for microsatellite status is based on length distribution analysis of multiplex-PCR generated DNA fragments from tumor samples which is a laborious and time consuming method. Next generation sequencing (NGS) using amplicon panels is an easy, accurate and scalable technique to determine both the microsatellite status and tumoral genome mutations at the same time. Here, we describe MIAmS, an application designed to tag microsatellite status from amplicon NGS of tumor samples. Interestingly, this tool does not require paired normal tissue for comparison. In addition, this scalable application provides a user-friendly report for the interpretation of the results by biologists and exhibits a strong accuracy and robustness for determination of the MSI status.

微卫星不稳定性（Microsatellite Instability, MSI）是DNA错配修复缺陷的分子标志物，在肿瘤发生过程中常发挥重要作用。MSI检测已被用于多种癌症的诊断、预后评估与治疗决策。当前微卫星状态检测的金标准分析方法，基于对肿瘤样本经多重聚合酶链式反应（multiplex-PCR）扩增得到的DNA片段进行长度分布分析，但该方法操作繁琐且耗时较长。基于扩增子panel的下一代测序（Next Generation Sequencing, NGS）技术，是一种简便、精准且可规模化的检测手段，可同时测定微卫星状态与肿瘤基因组突变情况。本文介绍MIAmS这一应用程序，其可通过肿瘤样本的扩增子NGS数据判定微卫星状态。值得注意的是，该工具无需配对正常组织作为对照。此外，这款可规模化的应用程序提供了用户友好型报告，便于生物学家解读检测结果，且在MSI状态判定方面展现出优异的准确性与稳健性。