I’m bothered by the description of the history of “junk” dna. Going by this article dna, researchers labeled it junk just because they couldn’t analyze it well and prioritized the easier 92% and thus didn’t understand it. Calling it junk just seems like trying to compensate for not understanding it like “I don’t understand it but that’s fine because it’s junk anyway”<p>And the scientist quote seems so wrong. if missing almost 10% of something when that ~10% is not like the other 90% then it seems like a very bad assumption to assume that it doesn’t show a lot of important features.<p>The quote: “ You would think that, with 92 percent of the genome completed long ago, another eight percent wouldn’t contribute much“
Now on to the more important challenge. Making our understanding of the human genome more diverse and less specific to certain geographic areas. This is already having an impact in studies, drug development, etc based on genomics.<p>Investing in organizations such as H3Africa will be important.
Maybe someone can explain what exactly it means. Are all the variants of every allele now mapped? Of course everyone might have a slightly different variant, so what does it mean?<p>What does complete mean?
> CHM13 lacks a Y chromosome, and homozygous Y-bearing CHMs are nonviable, so a different sample type will be required to complete this last remaining chromosome.<p>(from the paper itself)<p>It is a respectable achievement. But the Y chromosome is too important to be left out in order to call this the complete human genome.
It was enlightening to learn that to further increase the diversity and functioning of proteins, sugar groups are added (glycosylation) to our proteins at specific organelles within the human cell (think, Golgi apparatus, endoplasmic reticulum). Historically, proteins were studied first as they were more readily purified, then in the 1990s, decoding our genome took precedence in research funding. What is the next key funding target?
I feel I've read the same headline quite a few times over the years. Here's one from last year: <a href="https://www.theatlantic.com/science/archive/2021/06/the-human-genome-is-finally-complete/619172/" rel="nofollow">https://www.theatlantic.com/science/archive/2021/06/the-huma...</a>
Eh, it's referring to base pair variations. The title is on the sensationalistic side when you consider how most lay people will interpret it.<p>The cool stuff people imagine about in response to the title won't happen until researchers finish figuring out regulatory regions in the DNA; and, how DNA interacts with itself and environment, both spatially and temporally. Regulatory regions are promoters, enhancers, silencers, and insulators, and impact gene expression and regulation.
After ten years of "we are getting to the last mile"
and "we are finally completing", it just feels like
bio people cannot give up this good reason when
justifying their funding so we have to re-complete
human genome every other year.
“Junk DNA”, i.e. “non-coding DNA”, are the code segments of the DNA, while the “coding DNA” (“non-junk”) are the data segments.<p>As a programmer, I find the code segments the most interesting.
> The Human Genome Project essentially handed us the keys to euchromatin, the majority of the human genome, which is rich in genes, loosely packaged, and busy making RNA<p>> Jarvis and Formenti hope that their contribution will not only help tie a bow on the Human Genome Project, but also inform research into diseases linked to the heterochromatic genome—chief among them cancer<p>So the TL;DR or ELI5 version of this is this completion can help fight cancer. Had to wade through this article to get as to <i>why</i> we would want a complete sequencing. Any other non-obvious things we can do after this? Like perhaps life extension or other diseases we can cure?
It is unfortunate we are still misdirecting funds to fruitless endeavors like genetics. As we know, genetics has little influence on your individual biology or behavior, as race is a social construct and each human shares 99.9% of their DNA with each other. Further, hegemonic tools of assigning assumed traits to people, like gender and IQ, are also social constructs, so any connection they have to genetics is moot. If we are truly interested in having a diverse, equitable understanding of people, we should instead invest in efforts that actually seek to understand them as people: therapy, rehabilitation, and decolonization work.<p><a href="https://www.discovermagazine.com/planet-earth/race-is-real-but-its-not-genetic" rel="nofollow">https://www.discovermagazine.com/planet-earth/race-is-real-b...</a><p><a href="https://en.m.wikipedia.org/wiki/Race_and_genetics#Race_and_human_genetic_variation" rel="nofollow">https://en.m.wikipedia.org/wiki/Race_and_genetics#Race_and_h...</a><p><a href="https://www.independent.co.uk/news/science/iq-tests-are-fundamentally-flawed-and-using-them-alone-to-measure-intelligence-is-a-fallacy-study-finds-8425911.html" rel="nofollow">https://www.independent.co.uk/news/science/iq-tests-are-fund...</a>