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

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-

SUBMITTER: Hart SN 

PROVIDER: S-EPMC4793895 | biostudies-literature | 2016 Mar

REPOSITORIES: biostudies-literature