VCF-Miner: GUI-based application for mining variants and annotations stored in VCF files

Steven N. Hart, Patrick Duffy, Daniel J. Quest, Asif Hossain, Mike A. Meiners, Jean Pierre Kocher

Research output: Contribution to journalArticlepeer-review

26 Scopus citations

Abstract

Next-generation sequencing platforms are widely used to discover variants associated with disease. The processing of sequencing data involves read alignment, variant calling, variant annotation and variant filtering. The standard file format to hold variant calls is the variant call format (VCF) file. According to the format specifications, any arbitrary annotation can be added to the VCF file for downstream processing. However, most downstream analysis programs disregard annotations already present in the VCF and re-annotate variants using the annotation provided by that particular program. This precludes investigators who have collected information on variants from literature or other sources from including these annotations in the filtering and mining of variants. We have developed VCF-Miner, a graphical user interface-based stand-alone tool, to mine variants and annotation stored in the VCF. Powered by a MongoDB database engine, VCF-Miner enables the stepwise trimming of non-relevant variants. The grouping feature implemented in VCF-Miner can be used to identify somatic variants by contrasting variants in tumor and in normal samples or to identify recessive/dominant variants in family studies. It is not limited to human data, but can also be extended to include non-diploid organisms. It also supports copy number or any other variant type supported by the VCF specification. VCF-Miner can be used on a personal computer or large institutional servers and is freely available for download from http://bioinformaticstools.mayo.edu/research/vcf-miner/.

Original languageEnglish (US)
Pages (from-to)346-351
Number of pages6
JournalBriefings in bioinformatics
Volume17
Issue number2
DOIs
StatePublished - Mar 1 2016

Keywords

  • Analysis
  • Bioinformatics
  • Genomics
  • Software
  • User interface
  • VCF

ASJC Scopus subject areas

  • Information Systems
  • Molecular Biology

Fingerprint Dive into the research topics of 'VCF-Miner: GUI-based application for mining variants and annotations stored in VCF files'. Together they form a unique fingerprint.

Cite this