Why does OMIM module give less information than is in database?

KarchinLab / open-cravat

A modular annotation tool for genomic variants

MIT License

110 stars 27 forks source link

Why does OMIM module give less information than is in database? #216

Open jukerbox opened 8 months ago

jukerbox commented 8 months ago

Hello! We are using version 1.1.0 of OMIM module in our analysis of the WGS data.

There is a problem that a very small percentage of variant in the sqlite file had a link to OMIM database. But during manual search we found many more variants in this database. What could be the problem?

mlarsen5 commented 3 months ago

We are looking into this issue! Could you please provide what variants you have manually found in the database that are missing in the output ?

mlarsen5 commented 2 months ago

We are happy to help with this issue, please send the requested information.