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Exome sequencing and analysis of 450k UK Biobank participants

nature.com

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Re: Exome sequencing and analysis of 450k UK Biobank participants

#21

Post by epistasis »

hybrid_cluster wrote: post #19

Not too related, but I got my genome sequenced for fun the other day ( Ok, so I have a high genetic predisposition for thinness, walking fast [0], and bipolar disorder? So now what? I never noticed except for the thinness. They even scared me with 'you're genetically in the 99th percentile for critical covid disease progression,' but reading the results of the paper in question, it turned out the heritability of the…

This is precisely right, and for most people it's unlikely that their genome will be particularly useful any time soon.

For an individual, the questions are usually much more focused: for example if I have a baby with my partner, what are the chances that our child will have a recessive genetic disorder? This is answered right now with a carrier screen, where the only genes tested as the genes with variants that are known to cause disease. Much cheaper, much more highly curated, and put together and run entirely by experts in the field, rather than general technologists that are just running samples through a big machine.

Interpretation of the genome will take millions upon millions more individual genomes sequenced, but those individuals will only rarely, if ever, see personal benefit.

Re: Exome sequencing and analysis of 450k UK Biobank participants

#22

Post by car »

sjg007 wrote: post #20
ootsootsoots wrote: post #15

Earlier quoted context omitted.

Bio-electrics are starting to look at biology the way you describe. Michael Levin and team at Tufts are instigating regenerative healing by “boot strapping” the process through manipulation of electric fields surrounding cells. Understanding the extent of network effects will be a big idea in the future. Proving our statistics are probable causes versus mathematical object identification and social debate over the ef…

Tumor treating fields are a thing that apparently extend survival for folks with glioblastoma. Amazing.

Citation? Open minded, but this sounds like hogwash.

Re: Exome sequencing and analysis of 450k UK Biobank participants

#24

Post by car »

flobosg wrote: post #12

Twitter thread from one of the corresponding authors: https://twitter.com/gabecasis/status/1450289834543697925

Great explainer of the significance of this study by Goncalo Abecasis. Basically human gene knock-outs, courtesy of mother nature.

This study yields tons of gene function leads. Just awesome.

Edit: quote

The data is so rich that we had no more than a single paragraph to summarize association signals relevant to cancer and brain function. Ouch. A tweet won’t do them justice, but @uk_biobank will be sharing all the data with researchers for follow-up.

Re: Exome sequencing and analysis of 450k UK Biobank participants

#26

Post by flobosg »

car wrote: post #22
sjg007 wrote: post #20

Earlier quoted context omitted.

Tumor treating fields are a thing that apparently extend survival for folks with glioblastoma. Amazing.

Citation? Open minded, but this sounds like hogwash.

Here’s a recent review: https://www.frontiersin.org/articles/10.3389/fonc.2020.57599...

Re: Exome sequencing and analysis of 450k UK Biobank participants

#27

Post by twofornone »

dekhn wrote: post #9

awful lot of resources were spent to find very little of deep value. Genomics is just marginal gains for each huge new amount of capital invested.

We're talking about the source code of the human being. There's a ton of value in learning to translate it.

Re: Exome sequencing and analysis of 450k UK Biobank participants

#28

Post by da39a3ee »

xyzelement wrote: post #6
msandford wrote: post #3

Does anyone remember the days when some geneticists were saying that 98% of DNA is "junk" DNA? When I heard it I knew it couldn't be true but it's probably going to take another 50 years to figure out how much really does get used. I can't help but suspect that a lot of the genome is a part of the boot sequence that helps you go from one cell up to all the differentiated organs and tissues and systems.

Had the exact thought when I read the headline. What arrogance. "I don't understand what these genes do. Must be junk"

Actually no, that's not the intellectual level at which any science is performed, let alone population genetics and molecular genetics. Do you perhaps see the irony in making such a grotesquely arrogant suggestion yourself? People working on population genetics and molecular genetics, who came to the conclusion that much DNA has no phenotypic relevance, were doing so based on several decades of literature and 10-20+ years of their own education and scientific training. Would you care to give your own qualifications in this field?

Re: Exome sequencing and analysis of 450k UK Biobank participants

#29

Post by [deleted] »

hybrid_cluster wrote: post #19

Not too related, but I got my genome sequenced for fun the other day ( Ok, so I have a high genetic predisposition for thinness, walking fast [0], and bipolar disorder? So now what? I never noticed except for the thinness. They even scared me with 'you're genetically in the 99th percentile for critical covid disease progression,' but reading the results of the paper in question, it turned out the heritability of the…

[deleted]

Re: Exome sequencing and analysis of 450k UK Biobank participants

#30

Post by bhk »

not2b wrote: post #14
xyzelement wrote: post #6

Earlier quoted context omitted.

Had the exact thought when I read the headline. What arrogance. "I don't understand what these genes do. Must be junk"

Now they call it "non-coding DNA": https://en.wikipedia.org/wiki/Non-coding_DNA

That's not what your reference says. Briefly, "non-coding" means it doesn't code for proteins, while "junk" means it serves no function at all.
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