Varisnp, A Benchmark Database For Variations from dbSNP.
Författare
Summary, in English
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.
Avdelning/ar
Publiceringsår
2015
Språk
Engelska
Sidor
161-166
Publikation/Tidskrift/Serie
Human Mutation
Volym
36
Issue
2
Länkar
Dokumenttyp
Artikel i tidskrift
Förlag
John Wiley & Sons Inc.
Ämne
- Medical Genetics
Status
Published
Forskningsgrupp
- Protein Bioinformatics
ISBN/ISSN/Övrigt
- ISSN: 1059-7794