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As part of adding a Provisional Evidence subtile, we want to add a description to the [Allele Frequency Reference Sets Tile help section](https://brcaexchange.org/help#allele-frequency-reference-sets)…
e-t-k updated
2 months ago
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Request for two changes in the GCI for genetic data for individuals with autosomal recessive disease inheritance:
(1) Update the text next to the checkbox in the "Individual - Variant(s) and Score(…
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HPO has a notification banner indicating they are making API changes: old url https://hpo.jax.org/app/data/ontology is moving to [https://ontology.jax.org](https://ontology.jax.org/api/hp/docs/)
We…
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**Preferred gene-related syndrome label**
AFG3L2-related optic atrophy and/or ataxia
**Synonyms**
N/A
**Parent term (use [OLS](https://www.ebi.ac.uk/ols/ontologies/mondo), or your favorite ont…
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In civic v1, always shows the gene/variant names.
In the V2 curation timeline: https://civicdb.org/curation/activity/curation-timeline
We only see the event type and the entity IDs. Browsing t…
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CAR has implemented new CACN IDs that represent CNV variants. We need to update the GCI/VCI so that it can accept these new IDs.
Example of new CACN ID in the CAR: https://reg.clinicalgenome.org/alle…
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Either add functionality to annotate different data sources (OMIM P, inheritance type, GeneCC, HPO based kidney groups, ClinVar variants) to the merged table in the merge script "MergeAnalysesSources.…
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Sub-ticket for gnomAD v4 update https://github.com/ClinGen/gene-and-variant-curation-tools/issues/47
The gnomAD link out in the VCI is now pointing to the genomic coordinates of the variant in gnom…
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Our [Functional Curation Practices](https://civic.readthedocs.io/en/latest/curating/evidence.html#functional-curation-practices) section has a subsection entitled "Functional Evidence from Clinical Tr…
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Usually the curation team asks us for all variants on a set of genes. This time around, they have asked for a specific list of variants [attached]. In addition to the usual process, this requires some…