| How to sequence your own DNA at home(bradleywoolf.com) | |
| 249 points by bilsbie 11 hours ago | 98 comments | |
tl;dr: The author documents their process of sequencing their own genome five times at home using an Oxford Nanopore MinION (~$7.5k) plus consumables, walking through the full protocol from cheek swab collection through DNA extraction, library prep, flow cell loading, basecalling with Dorado, alignment to GRCh38, and variant calling with Clair3. The resulting VCF can be annotated via VEP, ClinVar, gnomAD, and PharmGKB to explore variants, drug metabolism, and rare mutations—though the author cautions this is exploratory, not diagnostic-grade, and costs remain out of reach for most people. | |
HN Discussion:
| |