bio-clinical-databases-pharmacogenomics
Queries PharmGKB / CPIC / DPWG for drug-gene interactions; calls CYP2D6/CYP2C9/CYP2C19/DPYD/TPMT/NUDT15/UGT1A1/SLCO1B1 star alleles and phenotype with PharmCAT, Cyrius (CYP2D6 structural variants), Aldy, Stargazer; applies Caudle 2020 activity-score translation. Use when implementing pharmacogenomic-guided prescribing, applying CPIC vs DPWG guidance, screening HLA risk alleles for ICI / antiepileptics / abacavir, or interpreting compound TPMT+NUDT15 thiopurine risk.
npx skills add BioTender-max/awesome-bio-agent-skills --skill pharmacogenomics --agent claude-code
Same command for any agent — swap --agent for codex, cursor, copilot.
Weekly change comes from our own snapshots, not the repository page — it measures attention, not adoption.
What it does
Instructs an agent to query pharmacogenomic resources and call star alleles across multiple genes, translate to phenotypes with activity scores, and apply CPIC/DPWG guidance. It defines a multi-tool workflow that prioritizes PharmCAT for the gene panel and requires CYP2D6 structural-variant aware input (via Cyrius or equivalent) when SVs are present. It also coordinates HLA typing and HLA-drug associations, and outlines how to interpret DPYD, TPMT, NUDT15, UGT1A1, SLCO1B1, and other pharmacogenes, using 2024–2026 guideline updates. The workflow includes a CPIC/DPWG governance framework, tool compatibility notes, and concrete CLI examples for running the analysis.
How it works
- Use PharmCAT as the primary workflow to generate CPIC-compliant reports from a VCF covering 21 genes (including CYP2C19, CYP2C9, DPYD, TPMT, NUDT15, UGT1A1, SLCO1B1, CYP2D6, VKORC1, and others).
- For CYP2D6 structural variants, run Cyrius (or StellarPGx) to obtain SV-aware haplotypes; PharmCAT does not call SVs alone.
- Combine outputs: PharmCAT results for multi-gene reporting; Cyrius output for SVs; separate HLA typing results for four-field resolution where applicable.
- Interpret activity scores per Caudle 2020 for CYP2D6 and use gene-specific activity-score methods for other genes when applicable.
- Reference and apply CPIC/DPWG guidance alongside PharmGKB annotations; use API and command examples to verify tools and versions.
When to use it
Use this workflow when implementing pharmacogenomic-guided prescribing with CPIC vs DPWG guidance, and when screening for HLA risk alleles for ICI, antiepileptics, or abacavir, or interpreting compound TPMT+NUDT15 thiopurine risk.
What it can touch
- Tool: PharmCAT
- Tool: Cyrius (CYP2D6 SVs)
- Tool: HLA typing tools (e.g., T1K, OptiType, HLA-LA) for 4-field resolution
- Data: VCF input, reference FASTA/GRCh38 alignments for preprocessing
Caveats
- Version compatibility notes emphasize PharmCAT 2.13+ and Cyrius 1.1+ for tested references; ensure installed versions match specified guidance.
- The workflow depends on CPIC and DPWG guidelines; differences between authorities should be interpreted per the governance section.
- PharmVar remains the authoritative star-allele source; older nomenclatures are deprecated for interpretation.
## Version Compatibility Reference examples tested with: PharmCAT 2.13+, Cyrius 1.1+ (Chen 2021), Aldy 4.0+, Stargazer 2.0+, StarPhase 1.0+ (PacBio HiFi), HIBAG 1.40+, requests 2.31+, pandas 2.2+. CPIC guideline versions are gene-specific; PharmVar releases are quarterly. The 2024 DPYD update (Lam et al. *Clin Pharmacol Ther*) replaced single-variant logic with the activity-score system; the 2025 TPMT/NUDT15 update (Maillard 2026) refines compound-IM dosing. Before using code patterns, verify installed versions match. If versions differ: - Python: `pip show <package>` then `help(module.function)` to check signatures - CLI: `<tool> --version` then `<tool> --help` to confirm flags If code throws ImportError, AttributeError, or TypeError, introspect the installed package and adapt the example to match the actual API rather than retrying. PharmVar is the authoritative star-allele source (`https://www.pharmvar.org`); the older Human CYP Allele Nomenclature Database was deprecated in 2017. # Pharmacogenomics; Star Alleles, Activity Scores, and CPIC/DPWG Guidance **'What is my patient's CYP2D6 metabolizer status and should I adjust their tamoxifen dose?'** -> Call star alleles (haplotype-
- Version Compatibility
- Governance: CPIC vs DPWG vs PharmGKB vs FDA
- PharmGKB Clinical Annotation Levels: What 1A Actually Means
- Star Allele Nomenclature (PharmVar)
- CYP2D6 Activity Scores (Caudle 2020 Clin Transl Sci; DOI 10.1111/cts.12692)
- CYP2D6 Structural Complexity
- Algorithmic Taxonomy: Star Allele Callers
- HLA-Drug Associations: Mechanistically Distinct from CYP
- Non-CYP Pharmacogenes: Variant-Level Detail
- DPYD (5-FU / Capecitabine / Tegafur); 2024 Activity Score Framework
- TPMT + NUDT15 (Thiopurines); 2025 Update
- UGT1A1 (Irinotecan, Atazanavir)
- CYP2C19 + Clopidogrel; The Most-Litigated Pair
- Warfarin (CYP2C9 + VKORC1 + CYP4F2)
PharmCAT (CPIC-recommended; covers 21 genes including CYP2C19, CYP2C9, CYP2D6, pharmcat_vcf_preprocessor.py \ java -jar pharmcat.jar \ Cyrius for CYP2D6 (99.3% concordance vs Aldy 82-87%, Stargazer 84%) cyrius -m sample.bam -o cyrius_out --threads 8 Pass outside calls to PharmCAT
What does the bio-clinical-databases-pharmacogenomics skill do?
Queries PharmGKB / CPIC / DPWG for drug-gene interactions; calls CYP2D6/CYP2C9/CYP2C19/DPYD/TPMT/NUDT15/UGT1A1/SLCO1B1 star alleles and phenotype with PharmCAT, Cyrius (CYP2D6 structural variants), Aldy, Stargazer; applies Caudle 2020 activity-score translation. Use when implementing pharmacogenomic-guided prescribing, applying CPIC vs DPWG guidance, screening HLA risk alleles for ICI / antiepileptics / abacavir, or interpreting compound TPMT+NUDT15 thiopurine risk.
How do I install it?
Run `npx skills add BioTender-max/awesome-bio-agent-skills --skill pharmacogenomics --agent claude-code` — it drops the skill into your project so the agent can pick it up. Swap the --agent value for codex, cursor or copilot if you use one of those.
Where does this skill come from?
From BioTender-max/awesome-bio-agent-skills, a repository with 135 stars. We read it straight from the repository tree rather than a submitted listing, so what you see here is what is actually published.
Is a popular skill a good skill?
Not necessarily. Stars measure attention, not adoption — a repository can trend for a week and be abandoned. That is why we show the weekly change from our own snapshots next to the total, instead of a single flattering number.
