I was asked to look into this last month, and we discussed a little bit on a Friday call recently. So far, we've been considering OMIM phenotypes the same thing as biolink:Disease which Chris Mungall has said is fine / correct. But there are some other potential issues I'm not sure have been fully addressed.
It's been a bit since I've looked at this, but if I remember correctly, my impression when looking at Dazhi's code is that it does not capture everything, and there are parts in the main file that are repetitive.
[ ] 2. Make sure all applicable OMIM TSV files and their fields are being used. I don't think this is currently the case, as I saw that (i) there are some genetic fields which are not being added (e.g. Ensembl and Entrez), and (ii) I am not 100% sure all the HGNC fields are being captured either.
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I was asked to look into this last month, and we discussed a little bit on a Friday call recently. So far, we've been considering OMIM phenotypes the same thing as
biolink:Diseasewhich Chris Mungall has said is fine / correct. But there are some other potential issues I'm not sure have been fully addressed.It's been a bit since I've looked at this, but if I remember correctly, my impression when looking at Dazhi's code is that it does not capture everything, and there are parts in the main file that are repetitive.
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