# Bench to Biobank

- **Event:** [Built with Claude: Life Sciences](https://cerebralvalley.ai/e/built-with-claude-life-sciences)
- **When:** Jul 7 at 12:00 PM – Jul 14 at 12:00 AM (EDT)
- **Where:** Online
- **Team:** [Yukang Jiang](https://cerebralvalley.ai/u/Kanny)
- **GitHub:** https://github.com/kannyjyk/bench2biobank
- **Demo video:** https://youtu.be/9pDIZY7dqPI
- **Gallery:** https://cerebralvalley.ai/e/built-with-claude-life-sciences/hackathon/gallery
- **Page:** https://cerebralvalley.ai/e/built-with-claude-life-sciences/hackathon/gallery/40

Autoimmune drug discovery often fails when a gene that looks important in a cell
experiment doesn't hold up in real people. We built a reproducible pipeline that
takes drug-target hypotheses from the Marson-lab genome-scale CD4+ T-cell
Perturb-seq screen all the way to individual-level human genomes in All of Us.

Every regulator passes through five independent evidence layers: bench causality
(CRISPRi knock-down that calms T-cell activation) → druggability → human GWAS →
biobank PheWAS (FinnGen + GWAS Catalog, cross-ancestry check in BioBank Japan) →
individual-level genomes in All of Us. From ~4,000 regulators, 2,771 pass the
bench filter and 86 are druggable and disease-linked.

What we found: the method works (PTPN22 and TYK2 controls replicate); IL23R
validates for inflammatory bowel disease in the right disease (OR 0.73,
P 4.4x10^-5); the three novel lupus receptor hypotheses return honest, well-
controlled results; and the pipeline catches its own false positives with a
nearest-gene stress test (e.g. our flagship "hidden hit" maps to a famous
neighbor, not our gene). It also surfaced ATP2B1 as an SLE-protective lead, then
honestly down-weighted it when its genetics turned out cardiometabolic.

Why it matters: the discrete result is not "three lupus targets" — it's a
reproducible bench-to-biobank pipeline that confirms a real target, gives honest
nulls, and catches its own false positives. It's packaged as an open, config-
driven tool (bench2biobank) that runs on any perturbation screen. Built entirely
in Claude Science.

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