SuRFing the genomics wave: an R package for prioritising SNPs by functionality

摘要

Identifying functional non-coding variants is one of the greatest unmet challenges in genetics. To help address this, we introduce an R package, SuRFR, which integrates functional annotation and prior biological knowledge to prioritise candidate functional variants. SuRFR is publicly available, modular, flexible, fast, and simple to use. We demonstrate that SuRFR performs with high sensitivity and specificity and provide a widely applicable and scalable benchmarking dataset for model training and validation.Website: Electronic supplementary materialThe online version of this article (doi:10.1186/s13073-014-0079-1) contains supplementary material, which is available to authorized users.