How I sequenced my genome at home
twitter.comOnce a person has their own DNA how do they analyze it to find known attributes like genetic dysfunctions, diseases and other characteristics without sharing said DNA with a third party?
This X post ultimately links to iwantosequencemygenomeathome.com [1]
You can go a very long way just mapping your DNA reads to a reference genome [0]. This reference will have associated annotations of different types, e.g. mutations, which automatically give you relevant information about your own genome by being present in it (or not).
Mapping is a fairly straightforward process where SOTA software is FOSS (as is most bioinformatics software). Accessing databases can be as simple as linking your data to the UCSC genome browser [1]. Of course, if you want to go the manual way, the sky is the limit.
Thankyou for this! Their data formats doc even describes how to use these in perl.
There was a thing from Patrick Collison recently
>by far the most useful preventative medical advice that I've ever received has come from unleashing coding agents on my genome, having them investigate my specific mutations, and having them recommend specific follow-on tests and treatments.
nanopore sequencing:
https://pmc.ncbi.nlm.nih.gov/articles/PMC9966803/
https://en.wikipedia.org/wiki/Nanopore_sequencing
https://pubs.acs.org/doi/10.1021/acs.langmuir.4c04961
BTW this tech can be used for more than sequencing, if you can arbitrarily pushmepullya the strand back and forth through the pore, or join the strand ends and cycle a hoop through the pore you can read, snip, splice, and continue, until you have a customized strand.