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by gravelc 3361 days ago
I'm a bioinformatician, but haven't really pondered doing this on my own DNA too much. Wouldn't be terribly complicated to sequence and analyse your entire genome though.

Provided you could purify your DNA, sequencing wouldn't be an issue - just send it off to someone like BGI (Beijing Genomics Institute) and download the seq files when they're done. Purified DNA is stable and inert, so no special conditions required for posting it.

Sequence files are just text (if they're in FASTQ format), and all the common tools are open-source. No doubt someone somewhere has put together a Docker image with software for the entire workflow (FASTQ file processing --> read alignment --> variant calling), so processing isn't a big issue. As there's no de novo genome assembly or anything like that, the whole thing can be done on a run-of-the-mill PC, and would take a few days, depending on the depth of sequencing.

My guess is cost would be approaching US$1000 now.

1 comments

Totally agree with everything you said, although I believe the price is closer to 500 than a 1000. I worked at a lab last year which did methylation analysis on rat genomes, and the price for sequencing was not nearly a 1000. Although the analysis was slightly different since they pulled out all the non methylated DNA, we still ended up with >50GB of 50 bp reads that had a decent coverage of the genome. I'm certain that whole genome sequencing would be easier than what I described.