CHASM and SNVBox: Toolkit for detecting biologically important single nucleotide mutations in cancer

Wing Chung Wong, Dewey Kim, Hannah Carter, Mark Diekhans, Michael C. Ryan, Rachel Karchin

Research output: Contribution to journalArticlepeer-review

Abstract

Summary: Thousands of cancer exomes are currently being sequenced, yielding millions of non-synonymous single nucleotide variants (SNVs) of possible relevance to disease etiology. Here, we provide a software toolkit to prioritize SNVs based on their predicted contribution to tumorigenesis. It includes a database of precomputed, predictive features covering all positions in the annotated human exome and can be used either stand-alone or as part of a larger variant discovery pipeline.

Original languageEnglish (US)
Article numberbtr357
Pages (from-to)2147-2148
Number of pages2
JournalBioinformatics
Volume27
Issue number15
DOIs
StatePublished - Aug 2011

ASJC Scopus subject areas

  • Statistics and Probability
  • Biochemistry
  • Molecular Biology
  • Computer Science Applications
  • Computational Theory and Mathematics
  • Computational Mathematics

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