GoKawiilA tinkerer says they have sequenced their own genome at home. This wasn’t a simple feat, nor a revolutionary, cheap new process, but they managed it armed with their Mac Studio and a few lab-grade but consumer-accessible biotech gadgets such as the Oxford Nanopore MinION. A family history featuring an autoimmune disease was the DIYer's major driving force behind this project.
To be clear, the blogger at iwantosequencemygenomeathome.com admits no medical advice is intended, and a kitchen genome sequencing test doesn’t match the accuracy or rigor of a clinical diagnosis.
As per the intro, the medical research DIYer has a “high risk of autoimmune disease” due to family background. This disease has already impacted an under-40 sibling, badly.
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The intrepid biotech DIYer put together a collection of biotech gear on their kitchen table. They explain that the MinION really opened the door to this kind of home DIY project. It is a pocket-sized nanopore sequencer that is configurable to scan a complete genome, or target certain parts of it for deeper sequencing.
Our hero would use the device’s adaptive sampling functionality and an LLM (Claude in this case) to generate a BED file - chromosome, start, end for each gene – to concentrate on specific genes relevant to the family history of autoimmune disease.
MinION Mk1D: A powerful, palm-sized sequencer for anyone, anywhere - YouTube Watch On
Oxford Nanopore’s MinION explainer video is embedded above
Want to sequence your own genome?
A large part of the blog post is about how the home genome sequencing was completed. The blog includes a bill of materials with the aforementioned MinION Mk1D sequencer, at $3,200, being the biggest ticket item on the shopping list. Another considerable expense is the R10.4.1 flow cell, which at $900, and as a single-use consumable, contributes the most considerable expense in repeat genome sequencing runs.
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