bio-splice-variant-prediction
Installation
SKILL.md
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>thenhelp(module.function)to check signatures - CLI:
<tool> --versionthen<tool> --helpto 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?