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Exome sequencing and analysis of 450k UK Biobank participants

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

#61

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…

You’re talking about phenotypes. With height people with entirely the same diets will end up different heights based on their genes. I used to think that intelligence was earned due to exercise and that others just needed to try harder. I’ve since seen enough people try really hard and fail that I no longer believe that. As with strength, some mutations give some people a big advantage. I don’t think it’s an assumption, there is a lot of evidence. Even the low studies have IQ at 50% DNA and that’s without the greater understandings we have today, I would put it at 80%. Plus likelihood of IQ supporting genes would be much much higher at the extremes.

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

#62
post #51

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 gene drug 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/NB…

100% it’s cheap enough that everyone should do it. The TNXB mutation has a ton of weird drug interactions. Anesthesia resistant being just one.

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

#63
post #48

Earlier quoted context omitted.

Well, it was the 70s. The "start" and "stop" codons were known. They could work out that transcription proteins would seek out those codons, produce a strip of mRNA of the DNA bases between those codons, zip it on over to the ribosome, and crank out a protein. Then there's the rest of the genome. Vast stretches of DNA that don't have the signals needed to transcribe proteins. Why? They didn't know. They had no idea.…

Hah, they would kill for a straw.

Like the old particle physics joke: trying to figure out how a mechanical watch works by pouring a hundred of them into a bucket, smashing them up with a hammer, sorting the fragments by size, and speculating how they fit together when intact.

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

#64

Earlier quoted context omitted.

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…

You’re talking about phenotypes. With height people with entirely the same diets will end up different heights based on their genes. I used to think that intelligence was earned due to exercise and that others just needed to try harder. I’ve since seen enough people try really hard and fail that I no longer believe that. As with strength, some mutations give some people a big advantage. I don’t think it’s an assumpti…

On the one hand, it is certainly very suggestive when you see that children's phenotypes very closely match those of their parents (though you do have to keep an eye out for confounders such as culture or environment even then).

On the other hand, if you try to actually predict things like height or IQ directly from some random genetic sequence someone puts in front of you ... well ... that turns out to be rather tricky.

Have you read any papers that give it a try?

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

#65
post #51

Earlier quoted context omitted.

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 gene drug 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/NB…

100% it’s cheap enough that everyone should do it. The TNXB mutation has a ton of weird drug interactions. Anesthesia resistant being just one.

Have you got a reference for that, I did search but could do with some help!
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