Will try to keep self-interested product placement to a minimum normally, but I thought I’d pass on that Helix has a $100 off sale for the next 72 hours. That means that the company I work for has a Neanderthal app on sale for $9.99. The regular price is $29.99, and added $80.00 for exome+ sequencing if you aren’t in the Helix database (which most people are not).
The upshot here is that the $9.99 will get you an exome+ sequence, which at some point in early 2018 you can download for $600. But if you don’t want to download it it’s a great way to get into the ecosystem on-the-cheap.
I assume most of my readers know what the exome is, but it’s basically the portion of your genome which is directly translated into functional proteins. That’s about ~1% of the genome, or ~30,000,000 bases. This is a major expansion on the SNP-chip platforms which are DTC which are in the 500,000 to 1,000,000 SNP range.
Anyway, not sure this will be appealing to readers who need a full download of data. But if you are the type who is more interested in getting applications related to your genome, this is a pretty good deal at a sub-$10 price point.
Note: To my knowledge only ships to USA currently.
Does that include basic ancestry estimates?
so the way it works is that helix keeps the data, and you buy ancillary apps. the neanderthal app gives you a %, and analysis on specific functional traits as to neanderthal or non-neanderthal provenance for you.
national geographic has an ancestry product. we are insitome will be coming out with one in the next few months.
Re: basic ancestry estimates? – Looks like for Nat Geo v.2 it’s another $100.
The variety of the applications is kind of sparse IMVHO. The raw exome data may be of interest to those tracking unusual hereditary conditions in families (I tried this approach years ago with 23andMe’s pilot run through BGI, but their interest fizzled & didn’t create any “ecosystem”).
The killer large-scale sequencing app I’m waiting for (and so are potentially hundreds thousand customer) is for resolving false positives in family-finder searches within the endogamous populations such as Ashkenazi. Due to the founder nature of the endogamous community, its members have numerous common ancestors at depths of 10 to 40 generations. As a result, it isn’t uncommon to see DNA “matches” of up to 200 cM with people with whom one doesn’t share any ancestors within the past couple centuries. And the would-be “distant cousin” matches of 10+ cM run in thousands, making it impossible to discern the actual distant family from the spurious matches. A higher marker density might remove some spurious matches, but given the depths of the founder events, one really needs to leverage fairly recent genetic variation to tell apart false-positives from real relatives. Within a hypothetical 15 cM matching segment, de novo mutations would accrue at a clip of roughly 0.1 per generation, right? So to be able to tell apart real 4th cousins from false matches, one pretty much needs to sequence the whole genome? The smaller portion of the genome is read, the harder it becomes to detect the predicted ~4 mutations in the segment if its origin is 10 rather than 5 generations back? My point being that the exome doesn’t have the power…
Razor blade model? https://en.wikipedia.org/wiki/Razor_and_blades_model
yes. or printer cartridges. or the apple app store.