OMIM has been fully integrated to opentargets correct?

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Dear Team,

I am wondering OMIM has been fully integrated to opentargets, correct?

How OMIM data is updated in Opentargets platform?

Thanks.

Shicheng

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Hi @Shicheng_Guo,

Open Targets does not directly integrate data from OMIM. However, we do incorporate these relationships from UniProt. UniProt curates information on diseases associated with genetic variations in proteins, and this includes data sourced from OMIM. Therefore, while OMIM data isn’t directly integrated into Open Targets, its evidence are indirectly captured via our UniProt integration.

To give you an example, this is how the APOB/Hypobetalipoproteinemia relationship reported by OMIM is captured by Uniprot in Open Targets.

It’s also important to note that this coverage may not be exhaustive, as there are mapping considerations between UniProt and OMIM, which means some data or relationships might be lost or not represented. It is in our radar to have a systematic look at the overlap between these two sources, so I’ll keep you posted on this.

I hope that was helpful! We’d love to hear what you think.

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Thank you irene for the informative response!!