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Hi,
in Finland, clinical geneticists have specific questions related to the (currently) healthy patients carrying a disease gene.
Do you use ORPHA-codes for coding in healthy subjects (for exam…
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## Initial Request
### Goal
_Describe what you're trying to accomplish. This is the only necessary step to start this process. The Committee is available to assist with all other steps. Please cle…
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We should have one place where we explain what the following terms mean in the context of Neurobagel:
- [ ] Metadata
- [x] Tabular or phenotypic data
- [x] Graph / database
- [x] Controlled term…
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Assess whether there is an existing experimental model for each candidate therapeutics target.
We can check this by seeing if there is an MPO or UPHENO annotation for the same phenotype.
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Hello,
Please consider the inclusion in the nomenclature of the entity Hypotonia, Ataxia, and Delayed Development Syndrome (HADDS).
The request comes from a coder:
“We have a patient with t…
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Hello
I would like to ask if it is possible to do CWGCNA for continuous variables? How to do?
this is my pds data
> head(pds)
Pyruvic_acid e_Hydroxypropanoic_acid e_Aminobutyr…
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### Checked other resources
- [X] I added a very descriptive title to this issue.
- [X] I searched the LangChain documentation with the integrated search.
- [X] I used the GitHub search to find a…
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New term request Lip: grooving around the lips (elthat_120822204737): Grooves
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Dear GitHub team,
We received questions from patient registry managers regarding the registration of healthy carriers:
1) **Asymptomatic form of muscular dystrophy of Duchenne and Becker in fema…
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I'd like to request a term for macular retinal dystrophy 1, North Carolina type. This disorder is a little unusual genomically - it is a mutation in a DNaseI hypersensitivity site that affects two gen…