bio-outlier-splicing-detection
Version Compatibility
Reference examples tested with: FRASER 2.0 (>=1.99.0), OUTRIDER 1.20+, LeafcutterMD via leafcutter 0.2.9+, DROP 1.4+, R 4.4+, BiocManager 1.30+
Before using code patterns, verify installed versions match. If versions differ:
- R:
packageVersion('<pkg>')then?function_nameto verify parameters - 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.
Outlier Splicing Detection
For clinical RNA-seq diagnostics in rare disease, the question is not "what differs between groups?" but "what is aberrant in this single patient relative to a panel of unaffected samples?". The statistical framework is single-sample-vs-cohort outlier detection, fundamentally different from two-group differential splicing. Tools in this space are designed for clinical Mendelian diagnostic settings.