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For the Variant Annotation model, we want to provide a value set for Diseases to support standard capture of disease references in VA Statement types - where we need to capture the Disease that a var…
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Any given data table has three types of counts
1. Distinct associations between X (and subclasses) and Y
2. Distinct Y
3. Distinct classes in closure
For example, on a phenotype page: Abnormality of …
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In reference to this piece: Reference: https://github.com/pparsons/angular-chromosome-vis/
http://pparsons.github.io/angular-chromosome-vis/
- [x] get to work on the page as-is
- [x] add ceontromere…
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In https://github.com/biothings/BioThings_Explorer_TRAPI/issues/370, we analyzed the list of 46 APIs currently listed in the `config.js` file, summarized below. One of the things that jumped out at…
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One strategy for generating negation data is to derived disjointness axioms based on PATO definitions. E.g. PATO already has:
'increased size' = size and inc-relative-to SOME normal
'decreased …
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Hi,
the publication list ends at 2014. This looks sad. Is somebody taking care of updating this? How can we help?
Especially these would be important:
- Next-generation diagnostics and disease-gene …
drseb updated
6 years ago
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Hi,
from an analysis of FAERS data, we have obtained a list of 1,770 MedDRA to MONDO mappings that we believe have a very high level of confidence:
[meddra-mondo-xref-0995-1.json.zip](https://gith…
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Seems that there have been discussions/ideas happening about genotype/variant representation - with use cases/requirements coming from Monarch and other efforts (e.g. JAX, MGI, MPD, AGR, etc).
I'd …
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Per our [Mondo call on 05/08](https://docs.google.com/document/d/1wXBv1Bh4JmdqPCbQyu78ZyrITpxQTAQi1odNO-0aPcw/edit), could we get a check in the ROBOT report to check that Mondo terms do not have any …
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## Overview
There are some OMIM entries where the values in "Alternative Titles; symbols" are marked as 'formerly'. In the curation call, these values were described as previous names/labels for the …