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.
Spanish National Cancer Research Centre (CNIO) | Madrid, Spain | HYBRID (2d/week on-site) | HPC Engineer | Full-time
We're looking for an HPC engineer to join us at the Bioinformatics Unit to help us boost the scientific computing infrastructure at our research centre.
What you'll do:
• Administer & grow our HPC cluster (Slurm)
• Help implement our new storage system (Ceph)
• Optional: write tools and/or co-author research papers
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/