7 ms·
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. mutat
by tdido 5mo ago
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.
[0] https://www.gencodegenes.org/human/ https://www.gencodegenes.org/human/
[1] https://genome.ucsc.edu/ https://genome.ucsc.edu/
- Bender 5mo agoThankyou for this! Their data formats doc even describes how to use these in perl.