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使用R包PreMSIm根据基因表达量来预测微卫星不稳定
2022-07-29 10:23:00 【Mrrunsen】
微卫星不稳定性(Microsatellite Instability,MSI), 是肿瘤基因组的一种特征,理论上是需要DNA测序的, 但是目前绝大部分的ngs样品都是转录组层面的,所以仅仅是根据部分基因的表达量高低来预测肿瘤样品的微卫星不稳定蛮有意义的。
恰好学员群有人问到了R包PreMSIm根据基因表达量来预测微卫星不稳定的问题,借花献佛分享给大家,文章发表在Computational and structural biotechnology journal 2020, 标题是:《PreMSIm: An R package for predicting microsatellite instability from the expression profiling of a gene panel in cancer.》
MSI诊断检测的方法和应用
正常情况下,可以通过DNA检测和免疫组织化学(immunohistochemistry,IHC)法,根据结直肠癌中MSI被检测出的频率可以将其分为三类 :
MSS,无明显的MSI出现;
MSI-L,MSI出现频率低,一般低于30%;
MSI-H,MSI出现频率低,一般高于30%。
MSI检测可作结直肠癌预后良好的标志 MSI结直肠癌5年生存率要显著高于MSS结直肠癌,MSI-H结直肠癌比MSS结直肠癌有更好的预后,同时,研究者还发现MSI结直肠癌转化为恶性肿瘤的机率较其他类型低,尤其对年轻的MSI结直肠癌患者来说,治愈机率很大。
PreMSIm的原理
PreMSIm本质上是一个分类模型而已,它首先针对 MSI-high (MSI-H) 和 MSI-low/microsatellite stability (
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