Integrated annotation and analysis of genetic variants from next-generation sequencing studies with variant tools

F. Anthony San lucas, Gao Wang, Paul Scheet, Bo Peng

Research output: Contribution to journalArticlepeer-review

113 Scopus citations

Abstract

Motivation: Storing, annotating and analyzing variants from next-generation sequencing projects can be difficult due to the availability of a wide array of data formats, tools and annotation sources, as well as the sheer size of the data files. Useful tools, including the GATK, ANNOVAR and BEDTools can be integrated into custom pipelines for annotating and analyzing sequence variants. However, building flexible pipelines that support the tracking of variants alongside their samples, while enabling updated annotation and reanalyses, is not a simple task.Results: We have developed variant tools, a flexible annotation and analysis toolset that greatly simplifies the storage, annotation and filtering of variants and the analysis of the underlying samples. variant tools can be used to manage and analyze genetic variants obtained from sequence alignments, and the command-line driven toolset could be used as a foundation for building more sophisticated analytical methods.

Original languageEnglish (US)
Article numberbtr667
Pages (from-to)421-422
Number of pages2
JournalBioinformatics
Volume28
Issue number3
DOIs
StatePublished - Feb 2012

ASJC Scopus subject areas

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

MD Anderson CCSG core facilities

  • Bioinformatics Shared Resource

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