VarAFT: a variant annotation and filtration system for human next generation sequencing data.

ABSTRACT: With the rapidly developing high-throughput sequencing technologies known as next generation sequencing or NGS, our approach to gene hunting and diagnosis has drastically changed. In <10 years, these technologies have moved from gene panel to whole genome sequencing and from an exclusively research context to clinical practice. Today, the limit is not the sequencing of one, many or all genes but rather the data analysis. Consequently, the challenge is to rapidly and efficiently identify disease-causing mutations within millions of variants. To do so, we developed the VarAFT software to annotate and pinpoint human disease-causing mutations through access to multiple layers of information. VarAFT was designed both for research and clinical contexts and is accessible to all scientists, regard

SUBMITTER: Desvignes JP 

PROVIDER: S-EPMC6030844 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature