Saturday, November 29, 2014

ClinVar variant-disease associations added

We have added ClinVar variant-disease associations into our database and first released into the Monarch Initiative portal in November, 2014. This new data accompanies previously incorporated ClinVar gene-disease associations (without the specificity of the variations). This initially includes 113,543 SNP, SNV, CNV (and other major rearrangements), linked to 13,591 genes and 11,154 diseases and phenotypes. The associations are also coupled to the original submitters and publications where the variations are reported. The data will be updated approximately monthly.

You can read more about our data sources here.