bio-outlier-splicing-detection skillA
bio-outlier-splicing-detection is agent-read markdown (skill) from pku-yuangroup/openai4s: Detects aberrant splicing in single rare-disease patients vs a control panel using FRASER 2.0 (Bioconductor; Beta-binomial autoencoder on Intron Jaccard Index, default delta cutoff 0.1, q hyperparameter), OUTRIDER (gene-level outlier expression via autoencoder denoising), LeafcutterMD (Dirichlet-multinomial outlier mode of LeafCutter for annotation-free junctions), and DROP (Snakemake pipeline integrating FRASER2 + OUTRIDER + monoallelic expression for clinical diagnostics). The statistical mode.
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What the file says
## 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+
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# 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.
## Tool Taxonomy
| Tool | Statistic | Test target | Fails when |
|------|-----------|-------------|------------|
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How to install
mdr add pku-yuangroup/openai4s/bio-outlier-splicing-detection@git:20260821.2d1b678mdr add pku-yuangroup/openai4s/bio-outlier-splicing-detection@sha256:7f80a649ff9fdfbfPin 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.
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Source
pku-yuangroup/openai4s · 586 stars · license MIT · pushed 2026-09-23 · branch main
API
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