Tag Archives: Bioinformatics

rarelens: building a rare-disease variant triage platform, and the four things I got wrong

By Kemal | September 12, 2026

Architecture diagram: SvelteKit UI and clinical scientist on the left, FastAPI and the triage service in the middle, PostgreSQL and HPO reference data, MLflow registry and the Nextflow pipeline on the right, with two deployment tracks below — serverless Cloud Run plus Google Batch, and Kubernetes with Pub/Sub, Argo Events and Argo Workflows.

An end-to-end rare-disease variant triage platform: a Nextflow pipeline, three execution backends behind one API call, Terraform for two cloud tracks, and a phenotype-driven ranking measured against 10,178 published cases. Including the model metric that collapsed to exactly random once I removed the feature doing all the work.

How I Built a Machine Learning Tool to Predict Drug Manufacturing Failures

By Kemal | January 25, 2026

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A bioprocess engineer’s journey into machine learning and why the pharmaceutical industry desperately needs this bridge When I tell people I work in bioprocess engineering, I usually get blank stares. When I explain that I help manufacture proteins in giant tanks for therapeutic use, the response is often: “Oh, like brewing beer?” Not quite. But… Read More: How I Built a Machine Learning Tool to Predict Drug… »