Oncotator: cancer variant annotation tool.

Oncotator: cancer variant annotation tool.
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DOI:
10.1002/humu.22771
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发表时间:
2015-04
期刊:
影响因子:
3.9
通讯作者:
Getz G
Getz G
中科院分区:
医学2区
文献类型:
--
作者:
Ramos AH;Lichtenstein L;Gupta M;Lawrence MS;Pugh TJ;Saksena G;Meyerson M;Getz G

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Oncotator是一种用于注释基因组点突变和短核苷酸插入/缺失(indels)的工具,具有与癌症研究人员相关的变异和基因中心信息。这些信息来自14个不同的公开可用资源,这些资源已经被汇集和索引,我们提供了一个可扩展的框架来添加额外的数据源。与变异相关的注释范围从基本信息,如基因名称和功能分类(例如错义),到来自癌症体细胞突变目录(COSMIC),癌症基因普查和癌症基因组图谱(TCGA)等资源的癌症特异性数据。对于本地使用,Oncotator作为Github上托管的Python模块免费提供(https://github.com/broadinstitute/oncotator)。此外,Oncotator也可以作为Web服务和Web应用程序在http://www.broadinstitute.org/oncotator/上获得。
Oncotator is a tool for annotating genomic point mutations and short nucleotide insertions/deletions (indels) with variant- and gene-centric information relevant to cancer researchers. This information is drawn from 14 different publicly available resources that have been pooled and indexed, and we provide an extensible framework to add additional data sources. Annotations linked to variants range from basic information, such as gene names and functional classification (e.g. missense), to cancer-specific data from resources such as the Catalogue of Somatic Mutations in Cancer (COSMIC), the Cancer Gene Census, and The Cancer Genome Atlas (TCGA). For local use, Oncotator is freely available as a python module hosted on Github (https://github.com/broadinstitute/oncotator). Furthermore, Oncotator is also available as a web service and web application at http://www.broadinstitute.org/oncotator/.
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