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Nucleic Acids Res. 2018 Jul 2;46(W1):W545-W553. doi: 10.1093/nar/gky471.

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

Author information

1
Aix Marseille Univ, INSERM, MMG, 13005, Marseille, France.
2
APHM, Hôpital d'Enfants de la Timone, Département de Génétique Médicale et de Biologie Cellulaire, 13385 Marseille, France.

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, regardless of bioinformatics training. Data from multiple samples may be combined to address all Mendelian inheritance modes, cancers or population genetics. Optimized filtration parameters can be stored and re-applied to large datasets. In addition to classical annotations from dbNSFP, VarAFT contains unique features at the disease (OMIM), phenotypic (HPO), gene (Gene Ontology, pathways) and variation levels (predictions from UMD-Predictor and Human Splicing Finder) that can be combined to optimally select candidate pathogenic mutations. VarAFT is freely available at: http://varaft.eu.

PMID:
29860484
PMCID:
PMC6030844
DOI:
10.1093/nar/gky471
[Indexed for MEDLINE]
Free PMC Article

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