Paper Info
Title
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, 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.
Year
DOI
Venue
2018
10.1093/nar/gky471
NUCLEIC ACIDS RESEARCH
Field
DocType
Volume
Annotation,Mendelian inheritance,Biology,Phenotype,Whole genome sequencing,DNA sequencing,RNA splicing,Genetics,Mutation
Journal
46
Issue
ISSN
Citations 
W1
0305-1048
0
PageRank 
References 
Authors
0.34
9
7
Name
Order
Citations
PageRank
Jean-Pierre Desvignes100.34
Marc Bartoli200.34
Valérie Delague300.34
Martin Krahn400.34
Morgane Miltgen500.34
Christophe Beroud6307.58
David Salgado72469.78