[farresito]

Getting your whole genome sequenced is around 200-300$. Nebula or Dante labs offer that. Once you receive the data, which is going to be a VCF file, you have to annotate it with something like Ensembl VEP, which adds useful information to analyze it. After that, you can download a list of genes associated with autism from SFARI and extract the variants that you have in those genes. You remove the common variants (say those that have more than 5% frequency) and focus on the coding variants (the ones that affect the exome). From there on, the interesting part begins. Depending on the kind of variant, you can get certain conclusions or certain others. There are tools that predict the pathogenicity of certain variants; other variants you know almost certainly that they render the resulting protein non-functional, so you have to take a closer look at the gene and see if having a single copy of the gene is enough. And so on.

It's not complicated at all and a lot of it can be done with basic Linux tools, like grep, and visualized with CSV viewers like Visidata. That's just a basic explanation. If you end up getting your genome sequenced and want to analyze it, let me know in a comment.

[h0l0cube]

Thank you for the info. I’m intrigued and considering doing it. As long as they don’t keep/sell my data.. or at least anonymise it

[farresito]

I understand your concerns, because I also had them. When I got my genome sequenced, I assumed that my data could one day be hacked and distributed like any other kind of data, so I tried to provide as little information as possible. In my case, I need it, so it's a no-brainer, but yeah, the concerns are legitimate. If you suffer from some condition, you might be able to ask your doctor to sequence you.