-
From Ellie: OT Platform currently uses PanelApp gene-disease associations but not the STRs (curated in house by Genomis England) or CNVs (sourced from ClinGen haplosufficiency assessments) which could…
-
Ideally, the next/previous variant buttons on the variant page should respect the filters that were applied on the all variants page.
-
https://broadinstitute.atlassian.net/browse/CGSP-530
Based on the MANE Select transcript, provide a search string that curators can use to search for publications.
See Table 2, on page 14 in the…
-
...at least for candidate genes manually specified by name only; priority/evidence as in "5 star rating" or "not specified"/"little evidence"/"strong evidence" or [0..1] score
-
This issue contains monthly updates to an automatically ranked list of PubMed papers as candidates for curation in the Bioregistry. Papers may be relevant in at least three ways:
(1) as a new prefix…
-
### Submitter Name
Kyle Moad/Rachel Karchin
### Submitter Affiliation
Johns Hopkins
### Submitter Github Handle
kmoad/RachelKarchin
### Additional Submitter Details
We are the PI …
-
This issue contains monthly updates to the ranked list of PubMed papers for curation. The full list can be found [here](https://github.com/tanayshah2/bioregistry/blob/5560dcf284f2c0309287e0a5a551e435e…
-
I'm going to use the 2022 acmg rules how can I change them
-
We plan to update gnomAD to v4, when available, and several updates will be needed.
Master list of tickets (in order of priority)
- [ ] #344
- [ ] #345
* includes updating the group table…
-
Raised on GCWG call on 3/18/21
When a curator wants to make minor updates to an already published GDM. When the curator gets to the Publish panel, if there is a published version already then there s…