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Right now it seems that the OWL converter doesn't do anything with the 'local_names' construct. e.g. something like this from biolink
variant to entity association mixin:
local_names:
ga4g…
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If you have information on the population of origin for any of these variants, it could be really useful to include it in the data files.
Also, allele frequency data must be available for at least …
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There have been previous mentions of the need to determine oncogenicity from variant + disease contexts:
https://github.com/cancervariants/metakb/issues/3#issuecomment-443148080
https://github.com…
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Dear ClinVar API Submitter,
Thank you for using the ClinVar Submission API! We are making changes to the API submission schema to support classifications of somatic variants. The details of the prop…
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ClinGen and the experts that work on improving the ACMG Var Path guidelines have been considering a change to improve and clarify the term used between patient centric observations and variant centric…
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When classifying variants in Scout the criteria are the same for all genes (but you can modify the strength of each criteria). ClinGen are publishing more and more gene-specific interpretations of the…
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Creating this ticket to begin collecting requirements and considerations for modeling "Genetic Conditions". This is the name we have given to the concept of "A disease or set of one or more co-occur…
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The `json_t` type has ended up with two interpretations:
# Options
## Option 1: `json_t` is the _any_ type
* The `json_t` is an any type, meaning any valid JSON type can be placed here.
* When…
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Dear Mr Hirotaka,
We read your paper on this protocol and I was wondering if you had a de-localised form of this repository that could be transferred and used on a different in-house system? We are i…
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Melissa suggestion, Mandy approved:
There's this paragraph, which is currently part of "What is BRCA Exchange?"
"There are two data views used by BRCA Exchange to aid researchers and clinicians …