Wednesday, November 19, 2014

Fwd: Varisnp, A Benchmark Database For Variations from dbSNP

Fwd: please follow footer link

Varisnp, A Benchmark Database For Variations from dbSNP: "

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.

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(Via human mutation.)