Forum:Fun things to do with my exome

Question

[davmlaw]

I'm a bioinformatician who's going have my exome sequenced. Aside from looking at potentially damaging variants, does anyone else have any ideas for what to do with it?

Yes, I know I could just do 23 & me but I'm into DIY.

Are there public resources which I could use to look into ancestry?

Look up random SNPs (eg the one that makes you more likely to smell asparagus in urine)

Map me & a mate against the Neanderthal or Gorilla genome and whoever has the highest mapping rate buys a round of beers?

Anyone else done this? What did you do?

[Istvan Albert]

Here is a related post with some neat answers A: Sequencing Your Own Genome! How Can It Be Done? Has Anyone Here Done It?

[Ram]

This is a fun topic! I think this discussion would belong better in the forums, no?

Answer 1

[Istvan Albert]

One problem with this is that we scientists (like journalists) are into bad news - because that's the only thing that pays reliably.

So most of the stuff that we look to find are things that are out to kill us. Or so we like to claim. Hence the lack of fun options.

I love the gorilla angle though.

Now that I wrecked my brain for a minute here is an option: The person with the fewest mismatches to the reference genome is to be declared the "Golden Average" - all the others to be butlers for one day.

[brentp]

or the "venerable venter"

[Istvan Albert]

or the "wondrous watson"

Answer 2

[brentp]

Make a website where people can paste a link to their own exome fastqs (and a $$ donation as needed) and 2 days later, you email them a link to a summary page listing:

• their ancestry
• their most interesting/deleterious variants
• a link to download their annotated VCF
• a HUGE disclaimer that you're not dispensing medical advice

[davmlaw]

How would you work out ancestry?

I imagine it would involve knowing allele frequencies for various populations / geographical areas around the world, then working out where you fit into that either statistically or perhaps by finding runs of SNPs or something.

[brentp]

yeah, you'd have the PCA projections from 1000 genomes or something and then see what ancestry the genome in question clustered with.

[davmlaw]

Fun to look back on this - Brent ended up making some tools (Peddy + Somalier) to do this:

https://brentp.github.io/somalier/ex.somalier-ancestry.html