生信注释软件annovar

上传者: xuhee | 上传时间: 2022-11-20 15:02:29 | 文件大小: 135.1MB | 文件类型: GZ
ANNOVAR是一个高效的注释工具,能够利用最新的数据来分析各种基因组中的遗传变异。由perl编写,支持包括VCF在内的多种输入和输出文件格式。 主要包含三种不同的注释方法:gene-based, region-based 和filter-based。基于基因的注释(Gene-based Annotation)揭示variant与已知基因直接的关系以及对其产生的功能性影响,基于区域的注释(Region-based Annotation)揭示variant 与不同基因组特定段的关系,例如:它是否落在转录因子结合区域等,基于筛选的注释(Filter-based Annotation)则分析变异位点是否位于指定的数据库中,比如dbSNP, 1000G,ESP 6500等数据库,计算SIFT/PolyPhen/LRT/MutationTaster/MutationAssessor等。

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