genomics
Posts tagged "genomics".
- I Sequenced My Family. We Still Don't Have an Answer.
A rare-disease hunt across my family and my sister's family: one of the kids has a developmental disability and seizures, and after years of specialists, no diagnosis. I'm a data engineer, not a geneticist — but I had the same raw material the labs use, so I sequenced the families and built a pipeline to look. Here's what the doing taught me, including the part where the mystery held.
- The Pipeline Behind Sequencing My Family
The companion to the personal essay: the how. On-demand pipeline assembly with an AI, what FASTQ/BAM/VCF actually are, why data quality is the whole game, the free tools a parent can reach, the South Asian reference-data gap, and why we anchored to the data instead of the phenotype.