[etdr]

I had my genome sequenced by Nebula. Honestly I know I shouldn't have from a privacy standpoint (especially since I signed up with my real name and details) but the idea of having my entire genome stored on my hard drive was too tempting for me, and now that's what I have. I have started looking into the software to analyze it, and I'm happy that it's a purchase that will be valid my entire life.

[Podgajski]

I was the same way. I have a genetic condition in my family of unknown origin and the risk of anything happening. My genetics outweighed the possibility, and what turned out to be the evidence of what my even partial genome could uncover.

Unfortunately, I was the only one in my family who understood this and the rest were too afraid to get the test done even though people in my family have died of this disease.

A few years ago I tried to get my full genome from nebula but they messed up my order really badly and it took over a year to get my money back. But it looks like they might be cleaning up their act and the $250 price is really tempting.

Since our disorder is polygenic, there’s still a lot of questions I have so I’m probably going to get a nebula run as well.

[romainsimon]

I did the same thing. Have you found any software to analyze it?

[etdr]

It's all command line tools, one is called samtools and another is called picard, there might be another one I'm forgetting.

The interesting this with the data is that it isn't your raw genome, it's the entire data from all the sequencing runs of 30 or whatever base pairs (I got my scan done at the 30x level which is supposed to mean that on average every base pair is read 30 times). So it's not like you can just read your DNA directly in one string (not sure why I want to do that but I like the idea of a single file containing just all my nucleotides in sequence). The next step for me, when I go back to it, is to get on the forums for those above tools and ask how to do the things I want, there are a LOT of subcommands.

[Metacelsus]

BWA and plink are other tools you're forgetting.

[boldlybold]

Welcome to the wonderful and confusing world of bioinformatics!

[anonymouskimmer]

IGV is very nice for viewing sequence data. I've never loaded anything into it that wasn't already prepared to be loaded into it, but this is probably fairly easy to do. It's really nice for viewing three-frame translation to look at the proteins encoded by DNA, but for eukaryotes you have to pay attention to mRNA splicing even if you know the boundaries of the protein coding sequences.

https://igv.org/doc/desktop/#UserGuide/reference_genome/

Edit: Since you use Nebula's service, have you emailed them to ask what they recommend for genome viewing and analysis?