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The complete sequence of a human Y chromosome

nature.com

81–90 of 232 posts

Re: The complete sequence of a human Y chromosome

#81
post #6

Could someone explain exactly what it means to be "completely sequence" the human genome when all humans have distinct genetic makeup (ie, different sequences of nucleobases in their DNA/RNA)?

Traditional sequences of the Y chromosome (and other chromosomes) were missing parts, particularly the highly repetitive regions called "telomeres". This is different from the issue of individual variation (although the authors do provide a map of known variations as well).

Re: The complete sequence of a human Y chromosome

#82
This news should be dated back in December, not now.

The T2T team published a preprint [1] last December and released the data [2] in March. However, due to the peer review process, the findings have only just been formally published in Nature. The publication timeline can indeed be slow, and in cases like this one, the question is: what's the point when all scientists interested in the topic already know about it and working with this assembly?

[1] https://www.biorxiv.org/content/10.1101/2022.12.01.518724v1.... [2] https://github.com/marbl/CHM13

Re: The complete sequence of a human Y chromosome

#83
post #6

Could someone explain exactly what it means to be "completely sequence" the human genome when all humans have distinct genetic makeup (ie, different sequences of nucleobases in their DNA/RNA)?

Thank you for putting into words exactly the thing I wanted to understand but couldn’t figure out how to ask.

Re: The complete sequence of a human Y chromosome

#84
post #47
post #37

Earlier quoted context omitted.

I'm curious if these 750MB + the DNA of mitochondria + the protein metagenomics contain all the information needed to build a human, or if there's extra info stored in the machinery of the first cell. That is if we transfer the DNA to an advanced alien civilization - would they be able to make a human.

This is a complex question. The cocktail soup in a gamete (sperm or egg) and the resulting zygote contains an awful lot of stuff that would be extremely hard to replace. I could imagine that if the receiving civilization was sufficiently advanced and had a model of what those cells contained (beyond the genomic information) they could build some sort of artificial cell that could bootstrap the genome to the point of…

What do you mean by "LR"? I queried an LLM but no results there either.

Re: The complete sequence of a human Y chromosome

#85

Earlier quoted context omitted.

I've never understood this either. I assume the genome is many megabytes of [ATCG]+. If we have that sequence, what does it tell us? Do we look at it and say "Ah, yes, ...ATGCTACGACTACGACTAGCG... very interesting?"

Many genes are highly conserved or consistent enough. E.g.: if there's a 1% difference between two people, then it's a bit like two very unique sentences that have a couple of small typos. They're sill recognisable, and it's also still pretty obvious that they're the "same". A gene sequence allows researchers to determine the amino acids that are coded for, and from those, which proteins match which genes. This can b…

But you can only know that by having a large sample of very “stable” (have few genetic irregularities) gene samples compared to a large pool of samples from people with very narrow and pronounced gene irregularities, right?

Is this why it’s so hard? This feels more like a healthcare records keeping people and less like an “actually reading the data problem”.

I can’t help but feel like some form of single payer healthcare is truly the way out of this problem. One where all disease record keeping is uniform and complete.

Re: The complete sequence of a human Y chromosome

#86
post #77

Is this like: "we have a working keyboard driver" or more like "we identified all 104 keys on a standard 104-key US QWERTY layout"?

Not answering your question, but I have to say, this is one of the best analogies I've encountered in a while.

Wow, thanks!

Re: The complete sequence of a human Y chromosome

#87

Earlier quoted context omitted.

Yes, and if you gzip it it's even smaller. But the big takeaway is that the amount of info that fully defines a human, is what we consider "not much data," even in its plainest encoding.

We don't know that it fully defines a human until we can create one without the starting condition of being inside another human. It's prototype-based inheritance.

Some of the research about being able to make simple animals grow structures from other animals in their evolutionary “tree” by changing chemical signaling—among other wild things like finding that memories may be stored outside the brain, at least in some animals—makes me think you need more than just the “code” to get the animal that would have been produced if that “code” were in its full context (of a reproductive cell doing all sorts of other stuff). Even if the dna contains the instructions for that reproductive cell, too, in some sense… which instructions do you “run”? There might be multiple possible variants, some of which don’t actually reproduce the animal you took the dna from.

Re: The complete sequence of a human Y chromosome

#88
post #47

Earlier quoted context omitted.

This is a complex question. The cocktail soup in a gamete (sperm or egg) and the resulting zygote contains an awful lot of stuff that would be extremely hard to replace. I could imagine that if the receiving civilization was sufficiently advanced and had a model of what those cells contained (beyond the genomic information) they could build some sort of artificial cell that could bootstrap the genome to the point of…

What do you mean by "LR"? I queried an LLM but no results there either.

oops i've said too much

Re: The complete sequence of a human Y chromosome

#89
post #67

This is actually kind of a huge deal since it means that all 24 chromosomes have now been fully sequenced. As it says in the abstract, up until now the Y chromosome proved difficult to sequence due to its nature.

I thought the human genome project finished in 2003, but now that I look it up again, apparently "finished" meant 92%. And then it was finished in 2022. And now it's finished again. Are there any remaining milestones left toward maybe finishing it again? Was the Y chromosome really just considered an exception until now?

human_genome_final_FINAL_3.txt

Re: The complete sequence of a human Y chromosome

#90

Earlier quoted context omitted.

What if it is apparent that there are other groups pushing the narrative that the media is untrustworthy so that they themselves can own the narrative? Any given group of humans will have a mixture of deceptive and trustworthy participants. Singling one group out for constant castigation, held against an impossible standard, makes it easier for dishonest members of other groups to avoid the spotlight.

"The media" isn't a uniform entity, but when people refer to it in this context they typically mean the large consolidated media corporations that own major print and television outlets. And those entities have essentially eroded their own credibility to the point that trusting anything they say is foolish. If they say the sky is blue, go out and check. They could do better, but until they do , it makes sense to cast…

The larger news outlets are some of the few remaining places that actually hold their news rooms to some kind of factual standard and facsimile of objective reality. If NYT or the Economist or the BBC tells me the sky is blue, I'm pretty sure it is. If they report on some scientific topic the reporter is not an expert on, I understand that there's probably some signal lost. If they publish something on a contested political topic, I understand there might be some slant in the direction of their overall political leaning. I also understand that they have an interest in the direction of their corporate ownership and host country. But there are plenty of other outlets trying (and succeeding) at capturing audiences who have all those same conflicts of interest, and more, but do not hold themselves to a factual standard.

While media companies have indeed "eroded their own credibility", in that there's a steady stream of falseness alongside truth, I would add with equal measure that "their credibility has been undermined by others". The loudest voices that castigate the media, in America at least, tend to be the ones that profit the most from being the sole arbiter of truth for their own audiences.

The business model of having an autonomous news room that holds itself to factual standards and is largely sequestered from advertising is shrinking and shrinking. I mourn its death, for I see no replacement coming along.

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