Open Pharmacogenetecist opened 2 years ago
Following up on the comments by @Pharmacogenetecist: I would really like to see the dead hyperlinks (i.e. https://github.com/PreMedKB/PAnno-analysis/tree/main/vcf and https://github.com/PreMedKB/PAnno-analysis/tree/main/report) working again.
kind regards, Sigve
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.