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

Niamh Ryan, Stewart W Morris, David J Porteous, Martin S Taylor, Kathryn L Evans

Research output: Contribution to journalArticlepeer-review

Abstract

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.
Original languageEnglish
Article number79
JournalGenome Medicine
Volume6
Issue number10
Early online date14 Oct 2014
DOIs
Publication statusPublished - 14 Oct 2014

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