DNA Methylation Pipeline
Bioinformatics pipeline for rare disease diagnosis through DNA methylation pattern analysis.
DNA methylation analysis is a powerful clinical tool for diagnosing rare genetic diseases where standard sequencing comes back inconclusive. It identifies disease-specific patterns across the epigenome — methylation signatures that can name what years of testing couldn’t.
I built this pipeline from both sides of the problem. As an ML scientist with a background in bioinformatics and computational biology. And as a rare disease patient who spent roughly five years undiagnosed, watching the healthcare system treat me like a problem it wasn’t designed to solve.
A working clinical pipeline is infrastructure for diagnosis. It affects patient outcomes directly. The pipeline connects to the Stanford RTTP collaboration, the Mayo Clinic Undiagnosed Patients Hackathon, and the broader Wilhelm Foundation rare disease AI ecosystem — all pieces of the same mission to close the gap between what technology can do and what patients actually receive.
I built the tool that might have diagnosed me. That’s not a marketing line. That’s the structural truth of this project.