Getting it into your agent
One page per mod, every tool's command on it. A separate URL per tool would split the same page into five that compete with each other.
npx skills add GPTomics/bioSkills --skill variant-prioritizationgit clone --depth 1 https://github.com/GPTomics/bioSkillsWrote this? Show the measurements
A badge with what this costs and how it scanned, read live from this page, so it follows the numbers instead of freezing them. Markdown for a README, HTML for a documentation site or a project page.
[](https://agentmods.dev/skills/gptomics/bioskills/variant-prioritization)<a href="https://agentmods.dev/skills/gptomics/bioskills/variant-prioritization"><img src="https://agentmods.dev/badge/skills/gptomics/bioskills/variant-prioritization/github.svg" alt="Measured on agentmods" height="20"></a>Or the 80×15 button, for a site that already has a row of RSS and ATOM ones. Only the verdict fits; the numbers stay here.
<a href="https://agentmods.dev/skills/gptomics/bioskills/variant-prioritization"><img src="https://agentmods.dev/badge/skills/gptomics/bioskills/variant-prioritization.svg" alt="Reviewed on agentmods" width="80" height="20"></a>What it costs to keep this loaded
Counted locally with the o200k_base tokenizer, which is exact for GPT models; Claude uses its own tokenizer and its counts differ. Treat this as one consistent yardstick across the catalogue rather than a bill. Prices are per million input tokens.
| Model | Per session | Once invoked |
|---|---|---|
| Fable 5.1 | $0.00167 | $0.06822 |
| Opus 5 | $0.00084 | $0.03411 |
| Sonnet 5 | $0.00033 | $0.01364 |
| Haiku 4.5 | $0.00017 | $0.00682 |
Grade A, and why
bio-clinical-databases-variant-prioritization scanned grade A with 0 findings against 26 rules in 11 categories — prompt injection, anti-refusal, data exfiltration, privilege escalation, supply chain, agent snooping, system-prompt leakage, SSRF and excessive agency — measured 7d ago.
A static scan of the body, not an audit. Every finding is printed with the line that produced it so you can judge whether it matters here. A mod is markdown that instructs an agent; that is exactly why what it instructs is worth reading.
Nothing flagged
None of the 26 patterns this scan looks for appear in this file: no shell pipes, no recursive deletes, no credential paths, no hidden text, no instruction-override or anti-refusal phrasing, no agent-config snooping. That is not a guarantee, it is the absence of the things that are checkable.
Copies of this mod
1 near-identical copy found in the catalogue:
- bio-clinical-databases-variant-prioritization — 97% identical, 12 lines differ
How it starts
The opening of the file, as written. The whole thing — 400 lines — stays where its author put it; the contents beside it link to each section on GitHub.
Version Compatibility
Reference examples tested with: pandas 2.2+, cyvcf2 0.30+, pyhgvs 0.12+, Exomiser 14.0+ (Smedley 2015), Phen2Gene 1.2+ (Zhao 2020), DeNovoGear 1.1.1+ (Ramu 2013), WhatsHap 2.0+ (Patterson 2015), HPO 2024+ (Human Phenotype Ontology). ACMG Secondary Findings list is v3.2 (Miller 2023): 81 genes.
Before using code patterns, verify installed versions match. If versions differ:
- Python:
pip show <package>thenhelp(module.function)to check signatures - CLI:
<tool> --version
If code throws ImportError, AttributeError, or TypeError, introspect the installed package and adapt the example to match the actual API rather than retrying. Phenotype-driven prioritization REQUIRES high-quality HPO terms; without rich phenotypic input Exomiser/AMELIE degrade significantly.
Rare-Disease Variant Prioritization Pipeline
'Prioritize candidate disease-causing variants from this trio exome' -> Filter to rare + functional + inheritance-consistent variants; rank by phenotype concordance; flag ACMG SF v3.2 incidental findings; report tiers with classification logic deferred to acmg-classification.
- Python (filtering pipeline): pandas + cyvcf2 + myvariant.info aggregation
- CLI (phenotype-driven ranking):
exomiser --analysis hiPHIVE-prioritised.yml - Python (de novo calling): DeNovoGear / Triodenovo / PossibleDeNovo
- CLI (compound het phasing):
whatshap phase --indelsfor singletons; trio-based for families - Python (HPO concordance): Phen2Gene / AMELIE / Phenolyzer
- VCEP curations:
https://cspec.genome.network/cspec/ui/svi/all
Pipeline Architecture: The Standard Rare-Disease Funnel
Typical trio exome enters as 40,000-100,000 variants per individual; reaches diagnostic candidate list of 1-10 variants through cascading filters:
| Stage | Filter | Variant count (typical trio) |
|---|---|---|
| Raw joint-called | -- | 100k-150k |
| QC filter (PASS, depth, GQ, missingness) | GATK best practices + Hail QC | 80k-120k |
| Population frequency | gnomAD grpmax_faf95 < 0.0001 (or disease-specific Whiffin max-credible-AF) | 5k-15k |
| Functional consequence | Coding / splice / regulatory | 1k-3k |
| Inheritance pattern | de novo / AR-hom / AR-compoundhet / X-linked / mosaic | 50-500 |
| Phenotype concordance | Exomiser hiPHIVE / Phen2Gene / AMELIE score | 5-50 |
| ACMG classification | Defer to acmg-classification |
1-10 |
| ACMG SF v3.2 cross-check | Miller 2023 (81 genes) | Separate output |
What ships with it
2 files beside SKILL.md in the same directory: the scripts, references and assets a skill reads on demand. Not counted in the per-session cost; read them before you install if any of them is executable.
What this file has done since we first saw it
Hashed on every crawl. A supply-chain change to an agent config is a question of when, not whether, so the history is kept rather than the latest state alone.
- 7d ago First seen · 400 lines · 167 tokens per session scan A ae8076be4d89
bio-clinical-databases-variant-prioritization is a skill published in the GitHub repository GPTomics/bioSkills (1,199 stars, last pushed 26d ago), licensed MIT. It adds 167 tokens to every session and 6,822 once invoked, about $0.0008 per session on Opus 5. A static security scan graded it A with 0 findings. No closer match exists in the catalogue, so it is treated as the original; first seen 2026-09-03.
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