BrowseVCF: a web-based application and workflow to quickly prioritize disease-causative variants in VCF files

摘要

Following variant calling and annotation, accurate variant filtering is a crucial step to extract meaningful information from sequencing data and to investigate disease aetiology. However, the variant call format (VCF) used to store this information is not easy to handle for non-bioinformaticians. We present BrowseVCF, a flexible and intuitive software to enable researchers to browse and filter millions of variants in a few seconds. Key features include querying user-defined gene lists, grouping samples for family or tumour/normal studies and exporting results in spreadsheet format. BrowseVCF's significant advantages over most existing tools include the ability to process data fromany DNA sequencing experiment (exome, whole-genome and amplicons) and to correctly parse files annotated with Variant Effect Predictor. BrowseVCF can be used either locally on personal computers or as part of automated pipelines. Its user interface has been carefully designed tominimize tunable parameters. BrowseVCF is freely available from https://github.com/BSGOxford/BrowseVCF/releases/latest.