Oncotator: cancer variant annotation tool

AH Ramos, L Lichtenstein, M Gupta… - Human …, 2015 - Wiley Online Library
AH Ramos, L Lichtenstein, M Gupta, MS Lawrence, TJ Pugh, G Saksena, M Meyerson
Human mutation, 2015Wiley Online Library
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 (eg missense), to cancer‐specific data from resources …
Abstract
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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