Re: [DIYbio] Re: How might one get their genome sequenced, if they can't diy it?

> I'm a little bemused by 23andMe's approach. It seems both too broad and too
> narrow. I imagine they chose the loci they did because something was known
> about the variability at each and what it meant as far as predispositions to
> what qualities. That was believable when I thought they did a mere 200
> sites, but a million!? Can there really be that many about which we have
> such knowledge?

You're right. We don't know much about a lot of those loci. We _do_
know that these loci are variable across the entire human population
(see the HapMap Project) but we don't know what most of them do. My
guess* is 23andMe came up with a way to rank all the SNPs on how
likely they are to actually be useful predictors of phenotype/disease
in the future even if we don't know anything about them now, probably
based on their position relative to coding sequences, transcription
factor binding sites, etc. The technology exists to sample that many
loci (see Illumina BeadChip technology) and it doesn't cost any less
to only use a portion of the chip's capacity, so it's better just to
collect the data now and update your database when information about
those loci becomes available.

* Pure speculation on my part. It's what I would do in their shoes.


> Also, with such extensive analysis, would it be so much
> more difficult to sequence an entire genome for someone and thereby cover
> the possibility of idiosyncrasy which I, and presumably most anyone, would
> want?

The technology exists if you have the money. I think it's under 10k
USD these days.


> Is there even such a thing as a consensus human genome for
> comparison? By that of course I mean the whole genome, not just consensus
> sequences for particular genes.

I suppose GRCh37 (NCBI) is the closest thing to a consensus human
genome currently. Or if you prefer to get your data from UCSC it's
called hg19. Although, GRCh37 is slightly more up to date since they
release patches periodically, currently on patch 13.

-cory

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