VCF.Filter: interactive prioritization of disease-linked genetic variants from sequencing data.

ABSTRACT: Next generation sequencing is widely used to link genetic variants to diseases, and it has massively accelerated the diagnosis and characterization of rare genetic diseases. After initial bioinformatic data processing, the interactive analysis of genome, exome, and panel sequencing data typically starts from lists of genetic variants in VCF format. Medical geneticists filter and annotate these lists to identify variants that may be relevant for the disease under investigation, or to select variants that are reported in a clinical diagnostics setting. We developed VCF.Filter to facilitate the search for disease-linked variants, providing a standalone Java program with a user-friendly interface for interactive variant filtering and annotation. VCF.Filter allows the user to define a broad ran

SUBMITTER: Muller H 

PROVIDER: S-EPMC5570181 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature