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Once a person has their own DNA how do they analyze it to find known attributes like genetic dysfunctions, diseases and other characteristics without sharing sa
by Bender 7mo ago
Once 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]
[1] - https://iwantosequencemygenomeathome.com/ https://iwantosequencemygenomeathome.com/
- tdido 7mo agoYou 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. [0] https://www.gencodegenes.org/human/ https://www.gencodegenes.org/human/ [1] https://genome.ucsc.edu/ https://genome.ucsc.edu/
- Bender 7mo agoThankyou for this! Their data formats doc even describes how to use these in perl.
- tim333 7mo agoThere 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. https://x.com/patrickc/status/2045164908912968060 https://x.com/patrickc/status/2045164908912968060