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xanth | 7 months ago

I've always been interested in having a full genome sequencing, do you have any other recommended resources for DIY/à la carte sequencing analysis?

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otherme123|7 months ago

There are lots of analysis you can do with a WGS, and lots of them involve a high level of expertise. But the basics are not that difficult, if you assume that you might be wrong (for example, you can try to do basic PGS for some conditions, but don't freak out if you score too high in some of them: take it as a hint worth of asking for professional guidance).

Assume you have your WGS files. BGI/Macrogen can already provide you with basic analysis (like the Variant calling), but next you can do is head to https://nf-co.re/ and look for pipelines that might be of your interest: sarek, raredisease, oncoanalyser, hlatyping... and have some fun. Next head to https://snakemake.github.io/snakemake-workflow-catalog/ and look if there is something you can be interested in (grenepipe, dna-seq-gatk-variant-calling, PopGLen...). With some help from a decent LLM you should be able to run your "admixture" that some people loves (the "I'm 3% asian, 24% african, 10% nordic..."). I don't know anyone that does à la carta analysis, we do all of them ourselves, but sure there are some.

Note that you enter a difficult world, and there is no absolutes there: is fun to play, the same way that is fun to track your own sugar levels with an app. But you shouldn't be diagnosing yourself or taking radical actions based on the results. You are not debugging yourself. Soon enough you'll be wondering about your RNA-seq under X or Y conditions.

vintermann|7 months ago

YSEQ is a German mom and pop lab which does next generation sequencing for genealogists. It has rather little utility for genealogists, but some people are really into figuring out their place in the great Y chromosome haplotree, so apparently there is a market. Family Tree DNA also does some next generation sequencing, of the Y chromosome and mitochondria only - they have bigger trees than YSEQ, but YSEQ I believe gives you the option to get even more resolution on the Y chromosome.

YSEQ will do full genome NGS if you ask for it but it's expensive, can take six months or more, and the owners have apparently been known to cancel your order and refund you if you complain about the wait times.