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mobidic / SEAL

SEAL db - Simple, Efficient And Lite database for NGS
GNU General Public License v3.0
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ClinVar #37

Closed Char-Al closed 8 months ago

Char-Al commented 1 year ago

It appears that there may be incomplete data in ClinVar.

For example, the variant chr14:g.23885322_23885324del is considered Pathogenic/Likely pathogenic, but is not showing up as such in SEAL.

After a quick investigation, it appears that SEAL is currently relying on ClinVar data via dbNSFP in VEP, which could be the cause of the missing information.

Char-Al commented 8 months ago

Fix by direct use of clinvar's vcf file