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Varisnp, A Benchmark Database For Variations from dbSNP.

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Author

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.

Publishing year

2015

Language

English

Pages

161-166

Publication/Series

Human Mutation

Volume

36

Issue

2

Document type

Journal article

Publisher

John Wiley & Sons Inc.

Topic

  • Medical Genetics

Status

Published

Research group

  • Protein Bioinformatics

ISBN/ISSN/Other

  • ISSN: 1059-7794