> However–and here’s the rub–some 25 years after the human genome was sequenced, and despite huge efforts to link genes and disease, there are almost no SNPs that tell you anything consequential about your health. If you have a genetic disease, you almost certainly already know about it, and if you don’t know, then the 23andMe data just isn’t going to reveal anything.
For someone who “knows genomes”, this is a brain dead take on microarrays. Lots of the content on arrays _is_ directly tied to a phenotype because there’s limited space so we directly test variants that are known to cause problems!
Is he really claiming that BRCA1/2 variants don’t increase risk of breast cancer in a meaningful way? Or that there aren’t tons of people who are XXY who don’t know even though it’s the hidden cause of many infertility problems?
This is just such a bad take it is hard to take anything said here seriously
Is he really claiming that BRCA1/2 variants don’t increase risk of breast cancer...
Even worse, if insurance companies had their way, they'd use the family matriarch's BRCA1/2 variant to set the rates for all her descendants. Massive DNA profiling doesn't just impact the "owner" of the DNA - it impacts anybody in their family tree who might have similar genes.
Nebula most likely ship your samples to China for processing and sequencing because it's so much cheaper. While that might not be a deal breaker for some, I would personally prefer my sample not be shipped elsewhere.
Eh, your results look perfectly fine, especially for a budget sequencing run. Keep in mind there are a lot of repetitive DNA sequences that don't map well (search "mappability track" for more info). Depending on the reference they used, these may even be masked out and thus no alignment can even be attempted.
No one should be BLASTing individual reads... And pretty much no one is going to be assembling with OLC, even for ONT data.
On the products page it says they provide FASTQs, aligned BAM and VCF. Which is exactly what one would expect. They're almost certainly just running the DRAGEN pipeline (or something similar) and giving you the output it creates.
Not for home gamers, no. ONT is fairly low throughput and the prep is surprisingly difficult to do well without experience. You would need to run tens of flow cells to get enough sequencing data.
Not to mention there is a good chunk of required "extra" equipment that is expected (centrifuges, etc) that bring the initial cost to well over $1000. You could buy most thing used, but some of the reagents could be difficult to acquire outside of a traditional lab.
Does it still require a pipettor, or could it work with just a transfer pipet? Their field kit should probably be as minimal as it could be.
Last I looked into it, it was a minimal set of extra equipment -- votexer, centrifuge, etc... nothing unusual for a bio lab. And even most of that could be handled with a good snap of the wrist, if you weren't trying to be super precise.
I have no skin in this particular game (Though I work in the sequencing industry), but...
I don't think anyone is fooled/trying to trick anyone when they say "whole genome sequencing" or that they sequence 100% of the genome. That is the term of art for non-targeted/unenriched sequencing of DNA (nb: it may be RNA/ribosome depleted, so fine it's technically enriched but not in a meaningful way).
Also exons are genic region, are you thinking introns (arguably genic or at least adjacent), or promoters/enhancers and chromatin state?
Lifetime license does not mean lifetime support. I get that that might be annoying, but why or how could they warranty third party software, that they don't control or version themselves, indefinitely?
Maybe. I'll need to get my hands on the license terms which I don't seem to be able to find. They are still offering security support for the product FWIW.
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1. They still get sick, even if asymptomatic, and can bring it home to the house where older people live
2. I don't know if there are published case report / data yet, but anecdotally the new strains are much more likely to cause complications and require hospitalizations for younger children.
3. Even asymptomatic infectious seem to cause "long covid" (Something like a third of long covid cases were asymptomatic). Potentially life-long alterations to lung or heart function doesn't sound like fun
But according to CDC, both people have to be vaccinated to talk to each other inside. This means that if one person is vaccinated you can't see you're immuno-compromised grandparent anyway.
Yes, but if your child is school age -- schools which are now increasingly going to in person instruction -- and you are immunocompromised, what are you going to do? Same question if you live in a multi-generational household, but now there are grandkids going to school and kids going to work.
I see elsewhere you're claiming that long Covid isn't a thing. It is, full stop. Unless you're suggesting that living with lung and heart damage caused by Covid isn't a complication of Covid?
Long COVID is post viral fatigue syndrome. Really sucks when you have it, nothing singularly new about it as far as any available evidence shows. A bunch of people are experiencing it all at the same time, hence the prominence in the media. "Long flu" is much more diffuse in time, so not media-worthy. Mine was 3 months of hell at 18 years old.
For someone who “knows genomes”, this is a brain dead take on microarrays. Lots of the content on arrays _is_ directly tied to a phenotype because there’s limited space so we directly test variants that are known to cause problems!
Is he really claiming that BRCA1/2 variants don’t increase risk of breast cancer in a meaningful way? Or that there aren’t tons of people who are XXY who don’t know even though it’s the hidden cause of many infertility problems?
This is just such a bad take it is hard to take anything said here seriously