I need some sets of pathogenic variants related to any mendelian disorder.
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5.0 years ago
sktbanerjee1 ▴ 30

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?

variant prioritization • 873 views
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5.0 years ago

Clinvar contains information about pathogenic variants in human disease.

But be aware of circularity in your training/testing!

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