MSIsensor-pro: Fast, Accurate, and Matched-normal-sample-free Detection of Microsatellite Instability

作     者：Peng Jia Xiaofei Yang Li Guo Bowen Liu Jiadong Lin Hao Liang Jianyong Sun Chengsheng Zhang Kai Ye Peng Jia;Xiaofei Yang;Li Guo;Bowen Liu;Jiadong Lin;Hao Liang;Jianyong Sun;Chengsheng Zhang;Kai Ye

作者机构：School of Automation Science and EngineeringFaculty of Electronic and Information EngineeringXi’an Jiaotong UniversityXi’an 710049China MOE Key Laboratory for Intelligent Networks&Networks SecurityFaculty of Electronic and Information EngineeringXi’an Jiaotong UniversityXi’an 710049China School of Computer Science and TechnologyFaculty of Electronic and Information EngineeringXi’an Jiaotong UniversityXi’an 710049China School of Life Science and TechnologyXi’an Jiaotong UniversityXi’an 710049China Leiden Institute of Advanced Computer ScienceLeiden UniversityLeiden 2311 ZENetherlands School of Mathematics and StatisticsXi’an Jiaotong UniversityXi’an 710049China Precision Medicine Centerthe First Affiliated Hospital of Xi’an Jiaotong UniversityXi’an 710061China Jackson Laboratory for Genomic MedicineFarmingtonCT 06032USA Genome Institutethe First Affiliated Hospital of Xi’an Jiaotong UniversityXi’an 710061China 

出 版 物：《Genomics, Proteomics & Bioinformatics》 (基因组蛋白质组与生物信息学报（英文版）)

年 卷 期：2020年第18卷第1期

页      面：65-71页

核心收录：

学科分类：0710[理学-生物学] 0831[工学-生物医学工程（可授工学、理学、医学学位）] 1001[医学-基础医学(可授医学、理学学位)] 08[工学] 0714[理学-统计学（可授理学、经济学学位）] 0703[理学-化学] 0836[工学-生物工程] 0701[理学-数学] 0812[工学-计算机科学与技术（可授工学、理学学位）] 

基　　金：supported by the National Key R&D Program of China(Grant Nos.2018YFC0910400 and 2017YFC0907500) the National Natural Science Foundation of China(Grant Nos.31671372,61702406,31701739,and 31970317) the National Science and Technology Major Project of China(Grant No.2018ZX10302205) the‘‘World-Class Universities and the Characteristic Development Guidance Funds for the Central Universities” the General Financial Grant from the China Postdoctoral Science Foundation(Grant Nos.2017M623178 and 2017M623188) 

主　　题：Microsatellite Polymerase slippage Multinomial distribution Microsatellite instability Tumor 

摘      要：Microsatellite instability(MSI)is a key biomarker for cancer therapy and *** experimental assays are laborious and time-consuming,and next-generation sequencingbased computational methods do not work on leukemia samples,paraffin-embedded samples,or patient-derived xenografts/organoids,due to the requirement of matched normal ***,we developed MSIsensor-pro,an open-source single sample MSI scoring method for research and clinical ***-pro introduces a multinomial distribution model to quantify polymerase slippages for each tumor sample and a discriminative site selection method to enable MSI detection without matched normal *** demonstrate that MSIsensor-pro is an ultrafast,accurate,and robust MSI calling *** samples with various sequencing depths and tumor purities,MSIsensor-pro significantly outperformed the current leading methods in both accuracy and computational ***-pro is available at https://***/xjtu-omics/msisensor-pro and free for non-commercial use,while a commercial license is provided upon request.