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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

#51

Post by tudorw »

tweedledee wrote: post #42

This is absolutely world changing. I've known that this was coming and was only a matter of time, it did get here sooner than I expected. I have hypermobile Ehelers Danlos Syndrome (hEDS) from a TNXB mutation. I was incorrectly told by doctors for decades that I was perfectly healthy and my issues were psychosomatic. It wasn't until I did a careful large scale behavioral analysis that I was able to identify similar p…

I think most anyone should have a CYP2D6 test if they are considering taking, or taking, medication, it affects so many drugs out there, yet here in the UK, the GP's I have encountered are not familiar with genedrug interactions and I had to request it after working it out myself. It's a complex area, but if you happen to be a poor or ultra metaboliser it's a good thing to know. https://www.ncbi.nlm.nih.gov/books/NBK99699/

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

#52

Post by Kim_Bruning »

tweedledee wrote: post #42

This is absolutely world changing. I've known that this was coming and was only a matter of time, it did get here sooner than I expected. I have hypermobile Ehelers Danlos Syndrome (hEDS) from a TNXB mutation. I was incorrectly told by doctors for decades that I was perfectly healthy and my issues were psychosomatic. It wasn't until I did a careful large scale behavioral analysis that I was able to identify similar p…

I figure DNA works a bit like makefiles. A particular target is only built if it is required somewhere. (And requirements can chain and branch, of course).

So most people realize that height is correlated to diet [given: a functioning gene set; your height is then determined by diet] , strength correlated to exercise [given a fairly broad spectrum that your genes support, exercise will update your strength) , visual accommodation ability to how much you need to accomodate.

But people somehow assume that something as complex and intertwined as an IQ score magically appears, stays constant throughout life, cannot be practiced, and isn't linked to some sort of exercise.

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

#53

Post by scrollaway »

ComputerGuru wrote: post #44
yellowcake0 wrote: post #43

Earlier quoted context omitted.

Is electron some sort of synthetic genome compiler?

It’s a (not well executed) joke about electron’s memory consumption and how developers refuse to use anything better.

> not well executed

Aw! :(

For the record I like Electron a lot and am usually the one to defend it on HN, but it indeed was a comment on binary size, needless duplication and copy-paste culture ;)

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

#54

Post by moonbug »

xyzelement wrote: post #36
da39a3ee wrote: post #28

Earlier quoted context omitted.

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+…

> Would you care to give your own qualifications in this field? I am a programmer, and I trust my ability to call out junk code. Except if I am reading code from someone like Carmack or Linus. In those cases, I am gonna assume whatever I don't understand is my fault. What hubris would it be for me to call Linus' code junk, even if I really can't make sense of it despite my best effort? Same here. It's fine to say "we…

peak Hacker News.

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

#55

Post by dekhn »

car wrote: post #25
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.

Why the pessimism? Lots of really interesting leads are coming out of this study.

well, I worked in the field for several decades and got really tired of the constant overhyping of the results. These results really aren't useful (they're not predictive, or useful for genetic screening) and the cost is really extraordinary (hundreds of millions of dollars). There are other areas of biology that provide much more value per dollar spent.

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

#56

Post by dekhn »

avaldes wrote: post #7
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.

> 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…

There are many similarities between information processing in biology and information processing in computing, but the analogies only stretch so far. It's worth reading the basic textbooks in this area to get an idea of what mainstream science currently thinks; speculating too far outside the mainstream is a guarantee you will never be successful.

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

#57

Post by dekhn »

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"

not exactly; many of those regions that we knew were junk weren't genes, but long regions of repitition of archaic junk that was inserted by viruses and replicated unnecessarily tens of thousands to millions of years ago. Generally, most scientists don't think that (for example) alu sequences really have strong function that you could measure in an experiment.

For example junk DNA was described before we really understood that RNA genes were common and so large regions of the genome that are RNA genes were just treated as totally non-functional.

Sean Eddy proposed an interesting experiment called the Random Genome to address these questions but I don't think anybody is seriously considering running the experiment.

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

#58

Post by dekhn »

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…

you just had the "hey, most of personalized medicine is actually psuedoscience" moment. Welcome to the club.

WHen I had my whole genome sequenced and analyzed by professionals, they were astonished because I didn't have a single risk factor in any known gene. They thought I'd live forever.

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

#59

Post by dekhn »

cblconfederate wrote: post #46

I think DNA data should be considered public data. 99% of our DNA is shared, and the DNA degrees of separation between you and me is ~3. Practically we are all already identifiable from the small sample that exists in genealogy companies and it s been repeatedly done by law enforcement. I think it's bonkers that , after 10 years, companies like 23andme are not allowed to give us health reports because ... what reason…

My DNA is public data: https://my.pgp-hms.org/profile/hu80855C

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

#60

Post by Kim_Bruning »

avaldes wrote: post #7
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.

> 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…

Turing did actually make a significant contribution to biology, but unfortunately he died right around the time the structure of DNA was discovered. Can you imagine what might have been?

https://www.dna.caltech.edu/courses/cs191/paperscs191/turing...

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