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clingen-data-model / genegraph

Presents an RDF triplestore of gene information using GraphQL APIs
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[GC Express]: #781

Closed marinadistefano closed 11 months ago

marinadistefano commented 11 months ago

Requester Name

Marina DiStefano

Requester Contact Info

mdistefa@broadinstitute.org

GC Express Entry Website URL

https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_3212

Additional Notes

Hi Marina,

Thank you so much for sharing this information with us.

Yes, the leadership team of HC-GCEP definitely agreed with Ada’s suggestions. We also think to unpublish the DICER1/PPB gene curation and to consider adjusting the dosage curation from PPB to DICER1-related tumor predisposition both make sense to us.

Best,

Sheng-An

--

Sheng-An Yang, PhD

Staff Scientist, ClinGen

Texas Children's Hospital

Department of Pediatrics, Baylor College of Medicine

toneillbroad commented 11 months ago

Deployed removal to stage and production. Confirmed removal.