Tuesday, October 21, 2014

Fwd: VariantDB: A flexible annotation and filtering portal for next generation sequencing data

Fwd: please follow footer link

VariantDB: A flexible annotation and filtering portal for next generation sequencing data: "Interpretation of the multitude of variants obtained from next generation sequencing (NGS) is labor intensive and complex. Web-based interfaces such as Galaxy streamline the generation of variant lists but lack flexibility in the downstream annotation and filtering that are necessary to identify causative variants in medical genomics. To this end, we built VariantDB, a web-based interactive annotation and filtering platform that automatically annotates variants with allele frequencies, functional impact, pathogenicity predictions and pathway information. VariantDB allows filtering by all annotations, under dominant, recessive or de novo inheritance models and is freely available at http://www.biomina.be/app/variantdb/."

(Via Genome Medicine.)