Open jamesdiao opened 7 years ago
[ ] Consider computing point estimates for diseases with no variants in the cohort.
[ ] Classify variants using MIM rather than by gene.
[ ] XML vs. VCF: Try using the ClinVar XML file rather than the VCF (ftp://ftp.ncbi.nlm.nih.gov/pub/clinvar/xml/).
[ ] Assertion rankings/stars: Try factoring in the ClinGen ranking system (stars corresponding to #submitters, assertion criteria, expert panel/practice guideline, etc).
[x] Account for ACMG guidelines in counts/fraction plots
[x] Add heatmap visualization to clinvar-over-time plots.
[x] Handle when current-day clinvar VCFs are not deleted after processing
[ ] Consider computing point estimates for diseases with no variants in the cohort.
[ ] Classify variants using MIM rather than by gene.
[ ] XML vs. VCF: Try using the ClinVar XML file rather than the VCF (ftp://ftp.ncbi.nlm.nih.gov/pub/clinvar/xml/).
[ ] Assertion rankings/stars: Try factoring in the ClinGen ranking system (stars corresponding to #submitters, assertion criteria, expert panel/practice guideline, etc).
[x] Account for ACMG guidelines in counts/fraction plots
[x] Add heatmap visualization to clinvar-over-time plots.
[x] Handle when current-day clinvar VCFs are not deleted after processing