Saturday, November 29, 2014

IMPC mouse knockout model phenotypes added

We have added phenotype data from the International Mouse Phenotyping Consortium, who's goal is to discover functional insight for every mouse gene by generating and systematically phenotyping knockout mouse strains. This initially includes 890 mice affecting 763 genes with 222 unique phenotypes. IMPC data will be updated approximately monthly.

IMPC data is presently accessible in the Monarch portal via Mouse gene pages (for example, Stk16, Gpr107, or Gpr22), or via phenotypic similarity comparison on disease pages (such as Sebastian Syndrome or Susceptibility to Malignant Hyperthermia 3).

You can read more about our data sources here.

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.