VariSNP, a benchmark database for variations from dbSNP.

@article{Schaafsma2015VariSNPAB,
  title={VariSNP, a benchmark database for variations from dbSNP.},
  author={Gerard C. P. Schaafsma and Mauno Vihinen},
  journal={Human mutation},
  year={2015},
  volume={36 2},
  pages={
          161-6
        }
}
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 nonpathogenic cases. All variant descriptions… CONTINUE READING
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