bio-splice-variant-prediction skillA
bio-splice-variant-prediction is agent-read markdown (skill) from pku-yuangroup/openai4s: Predicts whether a DNA variant alters mRNA splicing using sequence-based deep-learning tools — SpliceAI (10kb context dilated CNN, clinical default), Pangolin (multi-tissue), MMSplice (modular per-region CNN with calibrated ΔPSI), SpliceTransformer/TrASPr (tissue-aware transformers), SpliceVault (empirical 300K-RNA lookup of likely mis-splicing outcomes), CADD-Splice (composite score). Applies the ClinGen SVI 2023 framework for ACMG/AMP variant interpretation (PVS1, PP3, BP4 evidence codes), HGV.
Indexed from public GitHub and served as immutable, content-addressed versions. Install it pinned to an exact SHA-256 with the mdr CLI, and every file is verified against the hash recorded here before it reaches your agent. The deterministic audit below grades the latest version, and the same file always earns the same grade.
What the file says
## Version Compatibility Reference examples tested with: SpliceAI 1.3+, Pangolin 1.0+, MMSplice 2.4+, pyensembl 2.3+, pysam 0.22+, pandas 2.2+, gffutils 0.13+, tensorflow 2.15+ 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. # Splice Variant Prediction Predict whether a DNA variant alters mRNA splicing. **Distinct from "variant pathogenicity" generally**: a variant can be a strong splice disruptor without being pathogenic for the gene's standard mechanism, or pathogenic for reasons orthogonal to splicing. Splice prediction asks specifically: does this variant change splice-site usage? ## Predictor Taxonomy | Family | Architecture | Output | Fails when | |--------|--------------|--------|------------| …
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How to install
mdr add pku-yuangroup/openai4s/bio-splice-variant-prediction@git:20260821.2d1b678mdr add pku-yuangroup/openai4s/bio-splice-variant-prediction@sha256:ab2de1b6d6edac25Pin to a label to follow the author's releases, or to a sha256 to freeze the exact bytes forever. Either way the resolved hash is written to mdr.lock, and mdr install reproduces it on any machine.
[](https://markdownregistry.com/a/art_ygdw72ct2fakpulc)
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Audit of the latest version
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Source
pku-yuangroup/openai4s · 586 stars · license MIT · pushed 2026-09-23 · branch main
API
GET https://markdownregistry.com/api/v1/artifacts/art_ygdw72ct2fakpulc GET https://markdownregistry.com/api/v1/resolve?ref=pku-yuangroup/openai4s/bio-splice-variant-prediction GET https://markdownregistry.com/api/v1/blob/ab2de1b6d6edac25337b5a20901cfd9491d5b22df07e2b04be7a22555d1f81ba
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