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

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jukerbox opened this issue Nov 13, 2023 · 2 comments
Open

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

jukerbox opened this issue Nov 13, 2023 · 2 comments
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@mlarsen5

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@jukerbox
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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?
@jasminebro jasminebro transferred this issue from KarchinLab/open-cravat-modules-karchinlab Mar 11, 2024
@mlarsen5
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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 mlarsen5 reopened this Mar 26, 2024
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mlarsen5 commented May 1, 2024

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

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@jukerbox @mlarsen5