ClinGen gene dosage information
Open
Annotation
enhancement
- Dominant language
- Python
- Stars
- 30
- Forks
- 3
- Avg merge
- 9h 22m
- Merged PRs (30d)
- 40
Description
Wondering if it's worthwhile importing gene-dosage (haplinsufficiency, triploinsufficiency) with other ClinGen info. Quite useful esp for genes that haven't been assessed by the gene-disease committee yet. Example of data available in gene dosage reports shown below for A4GALT
https://search.clinicalgenome.org/kb/curations/
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