Great tool - Few questions #1
Description
Hi I was wondering if you could provide some documentation/link to which shown which genes are being interrogated?
In the report generated - My suggestion would be to remove the below and only show it when an IM/PM or related alleles are found. The below could be quite confusing and could make a clinician think that "action" or "dose adjustment" is required.
"mercaptopurine
Related Gene: NUDT15
Detected Alleles: *1
DPWG: Select an alternative drug or reduce the initial dose of mercaptopurine for patients that are NUDT15 poor metabolizers and reduce initial dose for patients that are NUDT15 intermediate metabolizers.
CPIC: Consider an alternate agent or extreme dose reduction of mercaptopurine for patients who are TPMT or NUDT15 poor metabolizers. Start at 30-80% of target dose for patients who are TPMT or NUDT15 intermediate metabolizers.
Related Gene: TPMT
Detected Alleles: *1
CPIC: Consider an alternate agent or extreme dose reduction of mercaptopurine for patients who are TPMT or NUDT15 poor metabolizers. Start at 30-80% of target dose for patients who are TPMT or NUDT15 intermediate metabolizers.
DPWG: Select an alternative drug or reduce the initial dose of mercaptopurine for patients that are TPMT poor metabolizers and reduce initial dose for patients that are TPMT intermediate metabolizers.
RNPGx: The French National Network of Pharmacogenetics (Réseau national de pharmacogénétique (RNPGx)) recommends testing for TPMT."
Also, both hyperlinks appear to lead to dead links:
(The VCF files are available at https://github.com/PreMedKB/PAnno-analysis/tree/main/vcf.
The PAnno reports are available at https://github.com/PreMedKB/PAnno-analysis/tree/main/report.)
Using the GIAB VCF, I am getting incorrect outputs for multiple genes.
Thank you,
Simran.