Microsatellite instability (MSI), a phenotype displayed as deletions/insertions of repetitive genomic sequences, has drawn great attention due to its application in cancer including diagnosis, prognosis and immunotherapy response prediction. Several methods have been developed for the detection of MSI, facilitating the MSI classification of cancer patients. In view of recent interest in minimally-invasive detection of MSI via liquid biopsy samples, which requires methods with high sensitivity to identify small fractions of altered DNA in the presence of large amount of wild type copies, sensitive MSI detection approaches are emerging. Here we review the available MSI detection methods and their detection limits and focus on recently developed next-generation-sequencing based approaches and bioinformatics algorithms available for MSI analysis in various cancer types.

微卫星不稳定性（MSI）是一种表现为重复基因组序列缺失/插入的表型，由于其在癌症的诊断、预后和免疫治疗反应预测中的应用而引起了极大的关注。已经开发了多种检测 MSI 的方法，促进了癌症患者的 MSI 分类。鉴于最近对通过液体活检样本微创检测 MSI 的兴趣，这需要具有高灵敏度的方法来识别存在大量野生型拷贝的小部分改变的 DNA，敏感的 MSI 检测方法正在出现。