bio-copy-number-germline-cnv-interpretation SKILL.md skillA
bio-copy-number-germline-cnv-interpretation from pku-yuangroup/openai4s is an agent skill: a SKILL.md folder an AI agent loads when a task calls for it.
mdr add pku-yuangroup/openai4s/bio-copy-number-germline-cnv-interpretation@git:20260821.2d1b678Pins git:20260821.2d1b678 in mdr.lock. Pin the fingerprint instead.
- Audit grade
- A, 17 of 17 checks passed
- Kind
- SKILL.md skill
- Repository
- pku-yuangroup/openai4s
- Path
skills/bioskills/bio-copy-number-germline-cnv-interpretation/SKILL.md- Versions recorded
- 1
- Latest version
- git:20260821.2d1b678, committed Aug 21, 2026
- Size
- 12,131 bytes
- Repository stars
- 662
- License
- MIT
Classify constitutional (germline) copy number variants for clinical reporting using the 2019 ACMG/ClinGen technical standards points-based framework, with ClassifyCNV and AnnotSV for semi-automated scoring. Covers the separate copy-number-loss and copy-number-gain rubrics, the five-tier classification, ClinGen haploinsufficiency/triplosensitivity and dosage-sensitive regions, de novo and segregation evidence, and population-frequency benign evidence. Use when assigning…
Collected from public GitHub. Every version is saved exactly as it was and never changes. Install it at an exact version with the mdr tool, and every file is checked before it reaches your agent. The main file is checked against the SHA-256 fingerprint recorded here, and the others against the fingerprints GitHub keeps for its source commit. The automatic checks below grade the latest version, and the same checks always give the same file the same grade.
What the file says
## Version Compatibility Reference examples tested with: ClassifyCNV 1.1+, AnnotSV 3.4+, Python 3.10+ with pandas 2.2+; bedtools 2.31+. Before using code patterns, verify installed versions match. If versions differ: - CLI: `python ClassifyCNV.py --help`, `AnnotSV --version` - Update the bundled ClinGen/dosage databases — ClassifyCNV ships an `update_clingen.sh`; dosage curation changes, and a stale database silently mis-scores. This skill is for **constitutional/germline** CNVs only. Somatic tumor CNVs use a different framework (AMP/ASCO/CAP and OncoKB tiers) — do not apply ACMG/ClinGen constitutional scoring to a tumor. # Germline CNV Interpretation **"Is this constitutional CNV pathogenic"** -> Apply the 2019 ACMG/ClinGen technical standards: a semiquantitative, points-based rubric that sums evidence into one of five clinical categories. There are two separate rubrics — one for copy-number **loss**, one for copy-number **gain** — because the evidence for deletion and duplication pathogenicity is different. The total score maps to a five-tier classification. - CLI: `ClassifyCNV` (automates the observed-evidence sections), `AnnotSV` (ACMG-aligned rank) …
Read the whole file at its exact version.
How to install
mdr add pku-yuangroup/openai4s/bio-copy-number-germline-cnv-interpretation@sha256:a2e42f69b30a5707The line at the top of this page pins the label git:20260821.2d1b678, which is what most people want. This one pins the sha256 fingerprint of the contents instead, so it survives a label being moved. Either way the exact version is written to mdr.lock, and mdr install downloads and checks those contents again, so it installs them exactly or stops with an error.
[](https://markdownregistry.com/a/art_bf77r6bhjbgmb3cg)
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Versions
The registry has recorded 1 version of this file, committed on Aug 21, 2026.
Audit of the latest version
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Source
pku-yuangroup/openai4s · 662 stars · license MIT · pushed 2026-11-03 · branch main
API
GET https://markdownregistry.com/api/v1/artifacts/art_bf77r6bhjbgmb3cg GET https://markdownregistry.com/api/v1/resolve?ref=pku-yuangroup/openai4s/bio-copy-number-germline-cnv-interpretation GET https://markdownregistry.com/api/v1/blob/a2e42f69b30a5707c1f27e6eafab016fc9474e11b14d52778660dc6b0aa05db6
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Guides: the SKILL.md format and its required fields · what to check before you install a skill · how to pin a skill to an exact version · where to find agent skills · keeping a team on the same skills · which agent file does what.