rare-disease-rnaseq
Blood RNA-seq expression-outlier detection for rare-disease diagnostics. Cases scored against a control reference panel; outliers ranked and filtered by a haploinsufficient disease-gene panel.
npx skills add BioTender-max/awesome-bio-agent-skills --skill rare-disease-rnaseq --agent claude-code
Same command for any agent — swap --agent for codex, cursor, copilot.
Weekly change comes from our own snapshots, not the repository page — it measures attention, not adoption.
# 🩸 Rare-Disease Blood RNA-seq Outlier Detection Reproduces the diagnostic principle of the Genomics England NGRL paper (Blood-based RNA-Seq of 5,412 individuals, medRxiv 2026.03.19.26348811). For each case sample, scores per-gene expression against a control reference panel and flags candidates falling in a curated dosage-sensitive disease-gene panel. ## When To Use - A WGS-negative or WGS-VUS rare-disease patient with a paired blood RNA-seq sample - A clinical bioinformatician triaging candidate diagnoses before MDT review - A population-biobank team building an ancestry-matched control reference for outlier calling (e.g. Qatar Biobank for Sidra paediatric cases) ## Method Per-gene robust outlier scoring on log2(CPM+1): 1. Library-size normalise (CPM), log-transform 2. For each gene: compute median and MAD across the control panel 3. For each case-gene cell: modified z = 0.6745 (x − median) / MAD 4. Flag |z| ≥ threshold (default 3) and gene in disease panel 5. Rank by |z|, separate down-outliers (haploinsufficiency-consistent) from up-outliers This implements the **diagnostic principle** of OUTRIDER (per-gene outlier vs control panel) without the autoencoder, so it runs in secon
- When To Use
- Method
- Input Contract
- Output Structure
- Demo
- Production Path (Sidra / QBB Reference)
- Safety
- Disclaimer
python clawbio.py run rdoutlier --demo
What does the rare-disease-rnaseq skill do?
Blood RNA-seq expression-outlier detection for rare-disease diagnostics. Cases scored against a control reference panel; outliers ranked and filtered by a haploinsufficient disease-gene panel.
How do I install it?
Run `npx skills add BioTender-max/awesome-bio-agent-skills --skill rare-disease-rnaseq --agent claude-code` — it drops the skill into your project so the agent can pick it up. Swap the --agent value for codex, cursor or copilot if you use one of those.
Where does this skill come from?
From BioTender-max/awesome-bio-agent-skills, a repository with 135 stars. We read it straight from the repository tree rather than a submitted listing, so what you see here is what is actually published.
Is a popular skill a good skill?
Not necessarily. Stars measure attention, not adoption — a repository can trend for a week and be abandoned. That is why we show the weekly change from our own snapshots next to the total, instead of a single flattering number.