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Dear all,
Please, add the OMIM [617642](https://omim.org/entry/617642) Polydactyly, postaxial, type A7 to [ORPHA:93334](https://www.orpha.net/en/disease/detail/93334) Postaxial polydactyly type A.
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Please note - details below are going to be discussed in person next week.
See [here](https://genetics.opentargets.org/study/GCST002222) for current Open Targets Genetics study page.
- [ ] Scenari…
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A good example is UMLS:C0006050, which is present both as its own clique and is also present in a completely different clique, since they are chemicals and proteins respectively: https://nodenormaliza…
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See also #154 - Variant Ranking / Prioritisation
Sarah raised an issue https://github.com/SACGF/variantgrid_com/issues/12
Background
In some cases it is not possible to reduce variants for investigat…
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Documenting in this ticket 'disease' term history, usage
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In EFO, the HP `Lymphadenitis` (http://purl.obolibrary.org/obo/HP_0002840) and the MONDO `lymphadenitis (disease)` (http://purl.obolibrary.org/obo/MONDO_0002052) look like duplicated terms
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As part of the Variant Page effort, we have discussed to start developing the first two widgets (sample data has been shared on slack):
- [x] ClinVar
```
{
"alleleOrigins": [
"germli…
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1) Search for what drugs may treat 'heart disease'
2) filter results for 'imatinib' - it has a very low score of 0.8, but nevertheless...
3) look at the 4th path displayed: imatinib treats coronar…
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The plan for updating the BioMuta pipeline was to be given to EBI for them to generate the datasets. We are still in talks with them but the most important issue is the disease and clinical patient da…