[tdido]

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/

[1] https://genome.ucsc.edu/

[Bender]

Thankyou for this! Their data formats doc even describes how to use these in perl.