Agent skill

bio-clinical-databases-acmg-classification

Applies ACMG/AMP 2015 framework with ClinGen SVI specifications, Tavtigian 2018/2020 Bayesian point system, Abou Tayoun 2018 PVS1 decision tree, Pejaver 2022 calibrated PP3/BP4 thresholds for REVEL/BayesDel/AlphaMissense, Brnich 2020 PS3/BS3 OddsPath, Walker 2023 SpliceAI splicing framework, and AMP/ASCO/CAP 2017 tumor tiers. Use when classifying germline variants P / LP / VUS / LB / B, applying VCEP-specific CSpec rules, computing Whiffin BS1, or assigning cancer Tier I-IV per Li 2017.

BioTender-maxgithub.com/BioTender-maxGitHub ↗
claude-codeships scriptsNOASSERTION
Install
npx skills add BioTender-max/awesome-bio-agent-skills --skill acmg-classification --agent claude-code

Same command for any agent — swap --agent for codex, cursor, copilot.

Facts
Files in the skill folder: 3
SKILL.md size: 27 KB
Bundled scripts: yes
Path: skills/bioskills/acmg-classification/SKILL.md
Open the folder on GitHub →
Where it comes from
Stars: 135
Language: Python

Weekly change comes from our own snapshots, not the repository page — it measures attention, not adoption.

From the SKILL.md

## Version Compatibility Reference examples tested with: requests 2.31+, pandas 2.2+, AutoPVS1 (Xiang 2020), InterVar 2.2+, GeneBe 1.0+ (Stawinski 2024 *Clin Genet*). ACMG/AMP Bayesian point system is Tavtigian 2018 *Genet Med* / 2020 *Hum Mutat*. Pejaver 2022 *AJHG* PP3/BP4 calibrated thresholds. ClinGen Splicing Subgroup 2023 (Walker *AJHG*). v3.2 ACMG SF list (Miller 2023). The ACMG 2.0 framework is in development as of May 2026; not yet published. 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` If code throws ImportError, AttributeError, or TypeError, introspect the installed package and adapt the example to match the actual API rather than retrying. VCEP-specific CSpec rules override default ACMG application; the authoritative directory is `https://cspec.genome.network/cspec/ui/svi/all`. # ACMG/AMP Variant Classification Framework **'Classify this variant per ACMG/AMP'** -> Apply 28-criterion framework using Tavtigian point system; gate on ClinGen SVI specifications and VCEP-specific overrides; assign P / LP / VUS / LB / B classification wi

What's inside
Steps it walks through
  1. Version Compatibility
  2. The Tavtigian Bayesian Point System: The Engine Inside All Modern Classifiers
  3. PVS1 Decision Tree (Abou Tayoun 2018 Hum Mutat 39:1517)
  4. Pejaver 2022 PP3/BP4 Calibrated Thresholds (the load-bearing 2024+ calibration)
  5. PM2Supporting (ClinGen SVI 2020)
  6. PS3/BS3 Functional Evidence (Brnich 2020 Genome Med 12:3)
  7. ClinGen SVI Splicing Subgroup 2023 (Walker AJHG 110:1046)
  8. BS1 / BA1 (Whiffin Max-Credible-AF)
  9. ClinGen VCEP CSpec Hierarchy
  10. Cancer Somatic Framework (Li 2017 J Mol Diagn 19:4)
  11. Decision Tree by Variant Type
  12. Standard Workflow: ACMG Classification
  13. Per-Operation Failure Modes
  14. Reconciliation: When Tools Disagree
Ships with 2 files
  • examples/acmg_classify.py
  • usage-guide.md
More from awesome-bio-agent-skills
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About this skill
What does the bio-clinical-databases-acmg-classification skill do?

Applies ACMG/AMP 2015 framework with ClinGen SVI specifications, Tavtigian 2018/2020 Bayesian point system, Abou Tayoun 2018 PVS1 decision tree, Pejaver 2022 calibrated PP3/BP4 thresholds for REVEL/BayesDel/AlphaMissense, Brnich 2020 PS3/BS3 OddsPath, Walker 2023 SpliceAI splicing framework, and AMP/ASCO/CAP 2017 tumor tiers. Use when classifying germline variants P / LP / VUS / LB / B, applying VCEP-specific CSpec rules, computing Whiffin BS1, or assigning cancer Tier I-IV per Li 2017.

How do I install it?

Run `npx skills add BioTender-max/awesome-bio-agent-skills --skill acmg-classification --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.

Keep going