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

被引：17
|
作者：
Ryan, Niamh M. [1 ]
Morris, Stewart W. [1 ]
Porteous, David J. [1 ,2 ]
Taylor, Martin S. [3 ]
Evans, Kathryn L. [1 ,2 ]
机构：
[1] Univ Edinburgh, Western Gen Hosp, Inst Genet & Mol Med, Ctr Genom & Expt Med, Edinburgh EH4 2XU, Midlothian, Scotland
[2] Univ Edinburgh, Ctr Cognit Ageing & Cognit Epidemiol, Edinburgh EH8 9JZ, Midlothian, Scotland
[3] Univ Edinburgh, Western Gen Hosp, Inst Genet & Mol Med, MRC Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland
来源：
GENOME MEDICINE | 2014年 / 6卷
基金：
英国医学研究理事会;
关键词：
IN-VIVO; CHROMATIN; SEQUENCE; VARIANTS; DATABASE; ANNOTATION; DISCOVERY; LOCI;
D O I：
10.1186/s13073-014-0079-1
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
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.
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页数：13
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