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Hi, I have some confusion about the OMIM ontology you released here, and @matentzn suggested that I should raise a ticket. I used Protege to load the OMIM data, but the number of classes is 44729, far…
Lawhy updated
2 months ago
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I have downloaded the `all_phenopackets.zip` from the 0.1.1 release and it appears there may be some duplicate phenopackets.
Looking at the directory `COL3A1` I checked some of the contents of the…
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https://github.com/neurobagel/api/blob/1e9ef34d54b89b824c42f1e6293a0ab9d5931c65/app/api/utility.py#L244-L246
should say `phenotypic`!
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Hi! In the list provided by MONDO to us (NORD) this term was obsoleted and I did not find it in MONDO. I did not find a ticket related to the reason for it to be obsoleted and would like to know as…
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During my testing of the beta quick search for G17689DH, I filtered the search by "Disease" on the sidebar and noticed "N-Glycosylation predicted" and "O-Glycosylation predicted" popped up in the "By …
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Dear Bart-Jan and Willem,
Recently, I installed statgenGWAS `install.packages("statgenGWAS")` after which I tried testing the installation following your example on https://biometris.github.io/sta…
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Currently, all runs converge to a normalized mean squared error of one. Ideally, this error should be zero.
These are both from run #50:
![nmse_in_time](https://user-images.githubusercontent.com…
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Hello! I am working on replicating some (amazing) work from Taylor's [IBD project](https://www.biorxiv.org/content/10.1101/2022.06.30.498290v1.full).
I have signatures from `sourmash sketch dna` of…
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Hello,
While working on https://github.com/geneontology/go-ontology/issues/15509
I came across some annotations that should be reviewed:
(incorrectly using the term OR could have a more specifi…
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Hi,
I have the following setup to compute PRS
- GWAS dataset ~250,000 individuals, Validation dataset ~ 60,000 individuals, Test dataset ~ 120,000 individuals
- Apply mean imputation to all th…