Human Mutation · 2015 · 533 citations · 46 references
Life SciencesBioinformaticsGeneticsCancer GeneticsGenomicsMolecular OncologyCancer GenomicsMolecular Classification Of TumorsMutation AnalysisVariant AnalysisVariant ClassificationVariant InterpretationCancer Data IntegrationCancer Genomics DatabasesGene-centric ViewPoint MutationsSomatic MutationsVariant AnnotationVariant Annotation SystemsVariant Interpretation In Oncology
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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The variant call format and VCFtools
Petr Danecek, Adam Auton, Gonçalo R. Abecasis et al. · Bioinformatics · 2011 · 17.8K citations · Full text
A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff
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Signatures of mutational processes in human cancer
Ludmil B. Alexandrov, Serena Nik‐Zainal, David C. Wedge et al. · Nature · 2013 · 10.1K citations · Full text
Medicine, Cancer Biology, Oncology +14
Comprehensive molecular characterization of human colon and rectal cancer