I need some sets of pathogenic variants related to any mendelian disorder.

Question

[sktbanerjee1]

Hello everyone, I am working on a method to prioritize pathogenic variants from exome sequencing data. I have developed a method, but how to validate that? where will i be able to get a set of pathogenic variants so that I can check the efficiency of our method?

Answer 1

[WouterDeCoster]

Clinvar contains information about pathogenic variants in human disease.

But be aware of circularity in your training/testing!