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Intro: see intro section of https://github.com/biothings/BioThings_Explorer_TRAPI/issues/583#issue-1622873383. Originally noted in https://github.com/biothings/BioThings_Explorer_TRAPI/issues/558#issu…
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only 1559 / 2382 gene-records have the omim disease ID field gene2phenotype.disease.disease_mim: https://pending.biothings.io/ebigene2phenotype/query?q=_exists_:gene2phenotype.disease.disease_mim
o…
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**Describe the bug**
![Screenshot 2024-10-01 at 10 22 07](https://github.com/user-attachments/assets/682a73dc-03ff-4c53-898d-197ca8b5908a)
A clear and concise description of what the bug is.
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I've been using `data/hgnc/hgnc_complete_set.txt`, which is provided by EBI. But it is not reliable.
I should use `data/hgnc/Homo_sapiens.gene_info`, which can be obtained at [https://ftp.ncbi.nlm.…
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## Description
We need to implement a checksum verification system for our data dependencies to ensure data integrity. This system should check the checksum of data dependencies by default, with an o…
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- [ ] @matentzn bring in corresponding genes for OMIM terms. Genes should be in the resulting RDF file - we should add the equiv axioms, where applicable
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Trying to use "maps_generator" , when I run ` python3.8 -m maps_generator --countries="World, WorldCoasts, Japan_*"` I got this error after map downloaded
[2020-12-11 02:30:51,836] INFO stages Stage…
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```
Running ./opening_hours_tests...
Running 23 test cases...
/home/mateusz/Desktop/tmp/omim_-_maps.me/3party/opening_hours/opening_hours_tests/opening_hours_tests.cpp(1337): error: in "OpeningHour…
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Attached in the screenshot are the top hits for a single sample run through exomiser's phenotype only mode + pheval runner post processing.
- The top two hits (ORPHA:25 and OMIM: 231670) are actuall…
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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 du…