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{"title":"Using FunSeq2 for Coding and Non-Coding Variant Annotation and Prioritization","authors":"Priyanka Dhingra, Yao Fu, Mark Gerstein, Ekta Khurana","doi":"10.1002/cpbi.23","DOIUrl":null,"url":null,"abstract":"<p>The identification of non-coding drivers remains a challenge and bottleneck for the use of whole-genome sequencing in the clinic. FunSeq2 is a computational tool for annotation and prioritization of somatic mutations in coding and non-coding regions. It integrates a data context made from large-scale genomic datasets and uses a high-throughput variant prioritization pipeline. This unit provides guidelines for installing and running FunSeq2 to (a) annotate and prioritize variants, (b) incorporate user-defined annotations, and (c) detect differential gene expression. © 2017 by John Wiley & Sons, Inc.</p>","PeriodicalId":10958,"journal":{"name":"Current protocols in bioinformatics","volume":"57 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2017-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/cpbi.23","citationCount":"6","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Current protocols in bioinformatics","FirstCategoryId":"1085","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1002/cpbi.23","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"Biochemistry, Genetics and Molecular Biology","Score":null,"Total":0}
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Abstract
The identification of non-coding drivers remains a challenge and bottleneck for the use of whole-genome sequencing in the clinic. FunSeq2 is a computational tool for annotation and prioritization of somatic mutations in coding and non-coding regions. It integrates a data context made from large-scale genomic datasets and uses a high-throughput variant prioritization pipeline. This unit provides guidelines for installing and running FunSeq2 to (a) annotate and prioritize variants, (b) incorporate user-defined annotations, and (c) detect differential gene expression. © 2017 by John Wiley & Sons, Inc.
使用FunSeq2进行编码和非编码变体标注和优先级排序
非编码驱动因子的鉴定仍然是全基因组测序在临床应用中的一个挑战和瓶颈。FunSeq2是编码区和非编码区体细胞突变的注释和优先排序的计算工具。它集成了由大规模基因组数据集组成的数据上下文,并使用高通量变异优先级管道。本单元提供了安装和运行FunSeq2的指南,以(a)注释和优先考虑变体,(b)合并用户定义的注释,以及(c)检测差异基因表达。©2017 by John Wiley &儿子,Inc。
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