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Following up on #482 about adding p-values and other association scores, we noted a few other areas where the GWAS data could be improved to make it better integrated and more useful.
### Current S…
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'Models' are animals or cell line systems that can be used to study a particular condition or disease. An entity is asserted to model a disease using the is_model_of relation (RO:0003301) - and in th…
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Related to https://github.com/monarch-initiative/monarch-app/issues/983
Currently taxon is only fetched for genes. Therefore it looks weird to see the column blank for disease / phenotype searches as …
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In Monarch app, we need some mechanism for users to comment on any given disease or phenotype ontology definition. At first this would just be for HPO and diseases. Perhaps add a button or link that s…
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We currently use the AMP/ASCO/CAP and ACMG (Mendelian cancer predisposition) guidelines to harmonize the somatic and germline variant classification, respectively. Unfortunately, both the ACMG and AMP…
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Hi Pheval authors
Recently I've seen your paper in Researchgate and I'm very interested so I gave a try. Following the instructions here https://monarch-initiative.github.io/pheval/exomiser_pipeline …
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```
[Term]
id: DOID:0080033
name: craniometaphyseal dysplasia
namespace: disease_ontology
def: "An osteosclerosis that has_material_basis_in mutations in the ANKH gene which results_in progressive thi…
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We have a term that was added in #5261
```yaml
id: MONDO:0800145
name: non-severe combined immunodeficiency due to polymerase delta deficiency
def: "Any non-severe combined immunodeficiency in w…
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We have a list of 38 new object properties that we're using in our ontology (the Sickle cell Disease Ontology) and would like you to consider including them in the RO.
The list of properties to be co…
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ClinVar provides a Disease/trait database and identifier for each 'RCV', which is a collection of one or more 'SCV' each of which include a free text field with what the submitter indicated the disea…