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Exome sequencing and analysis of 450k UK Biobank participants

nature.com

11–20 of 65 posts

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

#11

A reminder that these sorts of genome-wide studies are not particularly reliable due to the problem of multiple comparisons: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3270946/

A reminder that these sorts of genome-wide studies haven't used 0.05 but genome-wide significance (10e-8 usually, and 10e-11 in OP) for a decade now for precisely that reason, and have since replicated just fine, thank you very much.

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

#13
post #7

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.

> 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. Boot sequence. Amazing. I've always been interested in how the DNA transcription looks like a Turing machine with the RNAP being the head and the one DNA strand being the tape. Is there any research in that kind of computational analogy or is i…

I mean, it could be except that the tape in this case has 3D structure and can change shape (and thereby expression) depending on histone modification. So its close to a good analogy, but in some ways DNA is more interesting and complex than a reel to reel tape.

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

#14

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"

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

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

#15

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.

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 effects.

We’re moving beyond mere taxonomy and catalog of reality into seriously weird science.

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

#16

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.

FWIW the study focuses on the coding region of the human genome, i.e., the other 2%.

It is also important to point out that the fraction of non-coding DNA in a genome depends on the organism and is not correlated to complexity. There are multicellular organisms with less than 5% of it as well as unicellular organisms with amounts of DNA orders of magnitude higher than humans.

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

#17
post #16

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.

FWIW the study focuses on the coding region of the human genome, i.e., the other 2%. It is also important to point out that the fraction of non-coding DNA in a genome depends on the organism and is not correlated to complexity. There are multicellular organisms with less than 5% of it as well as unicellular organisms with amounts of DNA orders of magnitude higher than humans.

the marbled lungfish has the largest recorded genome of any eukaryote. One haploid copy of this fish's genome is composed of a whopping 132.8 billion base pairs, while one copy of a human haploid genome has only 3.5 billion

http://www.nature.com/scitable/topicpage/eukaryotic-genome-c...

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

#18

A reminder that these sorts of genome-wide studies are not particularly reliable due to the problem of multiple comparisons: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3270946/

https://en.m.wikipedia.org/wiki/Bonferroni_correction

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

#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 effect under study was only 6%. Thanks for letting me know.

These studies are interesting from a general genomics perspective, but not so much yet from a personal one (with the exception of a few traits that are determined by one or a few well-understood genetic variants. Hopefully this space will expand over the next few decades).

[0] https://www.nature.com/articles/s42003-020-01357-7

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

#20

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.

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.
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