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

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

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, modu...

Full description

Bibliographic Details
Main Authors: Ryan, Niamh M, Morris, Stewart W, Porteous, David J, Taylor, Martin S, Evans, Kathryn L
Format: Online
Language:English
Published: BioMed Central 2014
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4224693/
id pubmed-4224693
recordtype oai_dc
spelling pubmed-42246932014-11-14 SuRFing the genomics wave: an R package for prioritising SNPs by functionality Ryan, Niamh M Morris, Stewart W Porteous, David J Taylor, Martin S Evans, Kathryn L Software 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. BioMed Central 2014-10-14 /pmc/articles/PMC4224693/ /pubmed/25400697 http://dx.doi.org/10.1186/s13073-014-0079-1 Text en © Ryan et al.; licensee BioMed Central Ltd. 2014 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
repository_type Open Access Journal
institution_category Foreign Institution
institution US National Center for Biotechnology Information
building NCBI PubMed
collection Online Access
language English
format Online
author Ryan, Niamh M
Morris, Stewart W
Porteous, David J
Taylor, Martin S
Evans, Kathryn L
spellingShingle Ryan, Niamh M
Morris, Stewart W
Porteous, David J
Taylor, Martin S
Evans, Kathryn L
SuRFing the genomics wave: an R package for prioritising SNPs by functionality
author_facet Ryan, Niamh M
Morris, Stewart W
Porteous, David J
Taylor, Martin S
Evans, Kathryn L
author_sort Ryan, Niamh M
title SuRFing the genomics wave: an R package for prioritising SNPs by functionality
title_short SuRFing the genomics wave: an R package for prioritising SNPs by functionality
title_full SuRFing the genomics wave: an R package for prioritising SNPs by functionality
title_fullStr SuRFing the genomics wave: an R package for prioritising SNPs by functionality
title_full_unstemmed SuRFing the genomics wave: an R package for prioritising SNPs by functionality
title_sort surfing the genomics wave: an r package for prioritising snps by functionality
description 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.
publisher BioMed Central
publishDate 2014
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4224693/
_version_ 1613153894999785472

Similar Items