Files
rarelens/docs/blog
Kemal Yaylali 1e46fff2ff docs: a technical introduction to the platform, as a LaTeX article
docs/blog/rarelens.tex builds a 10-page write-up covering the Nextflow DSL2
pipeline, the three execution backends behind one API call, the Argo and
ArgoCD track, Terraform, the external systems integrated, the ranking, the
benchmark and the model.

It is deliberately as much an account of what was wrong as of what works: the
components that scored evidence nobody had looked up, the missense AUROC that
fell from 0.872 to 0.500 once allele frequency was removed, the ontology walk
that silently dropped 399 terms, and the propagation change that measured
slightly worse than what it replaced and was kept anyway with the numbers
published.

Figures come from one headless-browser script. Screenshots are of the running
application; the six diagrams are hand-written HTML styled from the same
palette, rendered by the same script. Keeping both in one place is what stops
the article drifting from the system, and every number in a diagram has to be
changed deliberately.
2026-09-12 13:10:47 +01:00
..

The technical introduction

rarelens.tex is a standalone technical write-up of the platform — pipeline, event-driven execution, infrastructure, the ranking, the model, and the parts that turned out to be wrong. rarelens.pdf is the built article (10 pages).

make            # build the PDF (uses a Docker TeX Live; nothing to install locally)
make figures    # re-capture every figure, then rebuild
make clean

Where the figures come from

Both kinds of figure are produced by one headless-browser script, diagram-sources/shoot.mjs, so the article cannot drift away from the thing it describes:

  • Screenshots (0106) are taken from the running application. make figures needs it up — make up && make migrate && make hpo, the API on :8000, the UI on :5173 — and a case that has been analysed. The published LoeysDietz case is the default; override with CASE_ID.
  • Diagrams (arch, events, pipeline, evidence, benchmark, model) are HTML pages in diagram-sources/, styled from the same palette as the application, rendered to PNG by the same script. They are hand-written rather than generated, so any number in them has to be updated deliberately when the measurement changes — which is the point.

Figures are committed because rebuilding them needs a running stack and a browser. If a measurement in the article changes, change it in the diagram source, re-run make figures, and say so in the commit.