Varisnp, A Benchmark Database For Variations from dbSNP.
Schaafsma, Gerard LU
and Vihinen, Mauno
LU
(2015)
In Human Mutation
36(2).
p.161-166
- Abstract
- For development and evaluation of methods for predicting the effects of variations, benchmark datasets are needed. Some previously developed datasets are available for this purpose, but newer and larger benchmark sets for benign variants have largely been missing. VariSNP datasets are selected from dbSNP. These subsets were filtered against disease-related variants in the ClinVar, UniProtKB/Swiss-Prot and PhenCode databases, to identify neutral or non-pathogenic cases. All variant descriptions include mapping to reference sequences on chromosomal, genomic, coding DNA and protein levels. The datasets will be updated with automated scripts on a regular basis and are freely available at https://structure.bmc.lu.se/VariSNP. This article is... (More)
- For development and evaluation of methods for predicting the effects of variations, benchmark datasets are needed. Some previously developed datasets are available for this purpose, but newer and larger benchmark sets for benign variants have largely been missing. VariSNP datasets are selected from dbSNP. These subsets were filtered against disease-related variants in the ClinVar, UniProtKB/Swiss-Prot and PhenCode databases, to identify neutral or non-pathogenic cases. All variant descriptions include mapping to reference sequences on chromosomal, genomic, coding DNA and protein levels. The datasets will be updated with automated scripts on a regular basis and are freely available at https://structure.bmc.lu.se/VariSNP. This article is protected by copyright. All rights reserved. (Less)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/4817033
- author
- Schaafsma, Gerard
LU
and Vihinen, Mauno
LU
- organization
- publishing date
- 2015
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Human Mutation
- volume
- 36
- issue
- 2
- pages
- 161 - 166
- publisher
- John Wiley & Sons Inc.
- external identifiers
-
- pmid:25385275
- wos:000349397300002
- scopus:84922011086
- pmid:25385275
- ISSN
- 1059-7794
- DOI
- 10.1002/humu.22727
- language
- English
- LU publication?
- yes
- id
- 90d20837-a7b0-4d7d-a2cc-da84b0e52338 (old id 4817033)
- alternative location
- http://www.ncbi.nlm.nih.gov/pubmed/25385275?dopt=Abstract
- date added to LUP
- 2016-04-01 10:15:12
- date last changed
- 2022-04-27 20:11:28
@article{90d20837-a7b0-4d7d-a2cc-da84b0e52338,
abstract = {{For development and evaluation of methods for predicting the effects of variations, benchmark datasets are needed. Some previously developed datasets are available for this purpose, but newer and larger benchmark sets for benign variants have largely been missing. VariSNP datasets are selected from dbSNP. These subsets were filtered against disease-related variants in the ClinVar, UniProtKB/Swiss-Prot and PhenCode databases, to identify neutral or non-pathogenic cases. All variant descriptions include mapping to reference sequences on chromosomal, genomic, coding DNA and protein levels. The datasets will be updated with automated scripts on a regular basis and are freely available at https://structure.bmc.lu.se/VariSNP. This article is protected by copyright. All rights reserved.}},
author = {{Schaafsma, Gerard and Vihinen, Mauno}},
issn = {{1059-7794}},
language = {{eng}},
number = {{2}},
pages = {{161--166}},
publisher = {{John Wiley & Sons Inc.}},
series = {{Human Mutation}},
title = {{Varisnp, A Benchmark Database For Variations from dbSNP.}},
url = {{http://dx.doi.org/10.1002/humu.22727}},
doi = {{10.1002/humu.22727}},
volume = {{36}},
year = {{2015}},
}