[HN Gopher] The human genome is, at long last, complete
___________________________________________________________________
The human genome is, at long last, complete
Author : marc__1
Score : 316 points
Date : 2022-04-02 15:34 UTC (7 hours ago)
(HTM) web link (www.rockefeller.edu)
(TXT) w3m dump (www.rockefeller.edu)
| csours wrote:
| Excellent, now we can watch it change!
| colordrops wrote:
| _The_ human genome, or _a_ human genome?
| [deleted]
| marcosdumay wrote:
| A single one. But completely mapped.
| amelius wrote:
| Man/woman?
| Jailbird wrote:
| Almost certainly.
| mmmrtl wrote:
| and yet neither "A complete hydatidiform mole (CHM)"
| tomjakubowski wrote:
| The answer is complicated. The molar pregnancy which CHM13
| was made from had two copies of one man's X chromosome and,
| separately, the project sequenced another man's Y
| chromosome.
|
| https://www.science.org/content/article/most-complete-
| human-...
|
| _The genome's Y chromosome came from Peshkin, and the rest
| of the DNA sequenced by the Telomere-to-Telomere (T2T)
| Consortium comes from a so-called molar pregnancy, a
| uterine growth that results on rare occasions when a sperm
| enters an egg that has no chromosomes. The fertilized cell
| can copy the sperm's 23 chromosomes, creating two identical
| sets, and begin to replicate._
|
| _The question remains open of whether the owner of CHM13's
| genome could be identified using public DNA sequences in
| genealogy databases. Phillippy thinks not because CHM13's
| genome only represents one-half of that person's DNA. Even
| if it were possible, NHGRI officials argue it would be
| unethical to reveal him for any reason, including to get
| consent._
|
| _Because CHM13 has an X chromosome but no Y, the T2T
| Consortium added Peshkin's DNA_
| [deleted]
| carbocation wrote:
| We'll get another batch of "the human genome is complete"
| articles when we start publishing graph genomes.
| inciampati wrote:
| I think those will be saying "we have just begun the sequencing
| of the human pangenome".
|
| The problem is endless. Life on earth is huge.
| syngrog66 wrote:
| if the planet shuts down today and we all melt into a hydro-
| carbon haze, then, this will be why. project complete
| cato_the_elder wrote:
| I feel I've read the same headline quite a few times over the
| years. Here's one from last year:
| https://www.theatlantic.com/science/archive/2021/06/the-huma...
| dogline wrote:
| Yes, and I've had a hard time parsing what's different this
| time than last time. Anybody?
| ma2t wrote:
| The Atlantic article is based on a preprint of one of the
| papers now formally published in Science. They both describe
| the same T2T-CHM13 assembly.
| ece wrote:
| There are telomeres and centromeres on the ends and middle of
| chromosomes that have really long repeating sequences, which
| until recently were hard to sequence. This sequenced those
| long sequences, from a fertilized egg that apparently didn't
| have any female DNA. Next steps are sequencing more
| individuals. If this sequencing tech gets cheap enough,
| individualized medicine could take a big leap forward. I hope
| that's a good summary.
|
| https://www.washingtonpost.com/science/2022/03/31/human-
| geno...
| ma2t wrote:
| Has no male DNA (no Y chromosome), and is completely
| homozygous which simplified the assembly.
| https://web.expasy.org/cellosaurus/CVCL_VU12
| ece wrote:
| The cell was female, but due to a quirk, the DNA was all
| male? Or I'm not understanding what the WaPo article
| said. The genome does have a Y chromosome: https://www.nc
| bi.nlm.nih.gov/assembly/GCA_009914755.4#/def
| ma2t wrote:
| That Y chromosome was added by applying same analysis
| workflow to a different biological source
| (CORIELL:NA24385, a NIST standard material used in the
| Genome in a Bottle project). The other chromosomes are
| all from the CHM13htert line (if you click on the
| individual chromosomes at your link above, you can scroll
| down to the "/isolate" feature to see what material the
| sequence was derived from). There's a long tradition of
| having a reference assembly be a combination of different
| individuals. Even the "standard" GRCh38/hg38 reference
| doesn't represent any single individual.
| jyxent wrote:
| These are both the same paper. The earlier link points to the
| preprint. The paper has now been published in Science.
| yread wrote:
| There is still room for improvement though, parts of the Y
| chromosome are still not there.
|
| Is it gonna be GRCh39 or will they change the naming scheme
| again?
| mmmrtl wrote:
| > [We] have decided to indefinitely postpone our next
| coordinate-changing update (GRCh39) while we evaluate new
| models and sequence content for the human reference
| assembly currently in development.
|
| https://www.ncbi.nlm.nih.gov/grc
|
| The complete Y chromosome from HG002 was added with v2
| (after the paper was written). Probably a patched form of
| GRCh38 will be made using T2T sequence, but IMO it makes
| more sense to use T2T-CHM13 as a reference with its single
| origin instead of a weird chimera, at least until pan-
| genome graph methods mature.
| cato_the_elder wrote:
| Touche. There's no shortage of these headlines though, here's
| one from 2003:
| https://www.nytimes.com/2003/04/15/science/once-again-
| scient...
| rootusrootus wrote:
| To be fair, they address exactly that point in the first
| few sentences.
| MathCodeLove wrote:
| I don't think the content which addresses the title is
| OP's point, just the fact that there have been _numerous_
| publications with this title or something similar.
| epistasis wrote:
| I'm not sure what the suggestion is here. Scientists
| should really work harder at their jobs and simplify the
| real world to the point that a headline that somebody
| absent mindedly read a decade ago don't sound repetitive?
| elliotec wrote:
| I think the suggestion is that we should use the word
| "complete" when we mean it. Presumably, unlike say a
| software project, there is an actual state of completion
| possible in sequencing the human genome. Why has that
| mark been supposedly met so many times over the past
| couple of decades, only to be called complete again a few
| years later? When is it actually complete? Does it even
| matter anymore?
| [deleted]
| bendbro wrote:
| 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.
|
| https://www.discovermagazine.com/planet-earth/race-is-real-b...
|
| https://en.m.wikipedia.org/wiki/Race_and_genetics#Race_and_h...
|
| https://www.independent.co.uk/news/science/iq-tests-are-fund...
| ineedasername wrote:
| If you do a few basic searches on the applications of this
| knowledge then you will see that the vast majority of research
| & benefits that have built off of it have nothing to do with
| anything you mentioned here.
|
| Information about the benefits of genomic research are
| trivially easy to find. To get you started in general, checkout
| [1] below. For one of the most prominent examples-- the way it
| fundamentally transformed cancer research, checkout [2].
|
| [1]
| https://www.google.com/search?q=genomic+research+application...
|
| [2] https://www.icr.ac.uk/news-features/latest-features/how-
| the-...
| WallyFunk wrote:
| > 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
|
| > 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
|
| 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 _why_
| 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?
| jahewson wrote:
| Cancerous cells can have a rapidly changing genome, with the
| heterochromatin "glue" between genes playing an important role
| in this, including altering how much those genes get expressed.
|
| This work has sequenced the "glue" so we know what's supposed
| to be there and can better understand what's different about
| cancerous cells beyond the usual gene mutations.
| mmmrtl wrote:
| Literally any genetic disease (or shortcomings like aging)
| could have missing facets hidden in these newly-complete
| regions of the genome. It's kind of the same reason you would
| want a complete anything, it's not ideal to go hunting for
| knowledge while blinded to a nonrandom 8% of the territory.
| ncmncm wrote:
| "Cancer" is the gimme-funding word. It is quite doubtful that
| this work will enable much better cancer treatment than what we
| already had.
|
| But it's science. Nobody knows what might come out, which is
| really the point.
| mint2 wrote:
| 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"
|
| 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.
|
| The quote: " You would think that, with 92 percent of the genome
| completed long ago, another eight percent wouldn't contribute
| much"
| [deleted]
| fabian2k wrote:
| There is a very clear difference between "junk" DNA and "non-
| junk" DNA, the latter encodes proteins. That doesn't mean that
| the DNA parts that don't encode proteins are junk, this is more
| of an exaggeration or misunderstanding that is often repeated,
| but not what scientists thought.
|
| There are clearly parts of DNA that are not essential, this is
| clear if you compare genome sizes between different organism.
| They can vary enormously, and not in a way correlated with any
| complexity of the organism. There are also parts of DNA that
| are remnants of viruses inserting many copies of their DNA,
| which are the parts that could be considered junk. Even those
| might have an effect simply due to their presence, but
| essentially everything in the cell has some effects if you look
| closely enough.
| panabee wrote:
| or the viral DNA might have an effect if demethylated.
| Vladimof wrote:
| shadowgovt wrote:
| It would have been wise to declare it "the unknown regions" or
| "the frontier," I think. Something to more closely indicate
| that our gap of understanding was wider than indicated by the
| moniker the project chose.
|
| And I also agree with the bad assumption on the remaining 8%
| not being significant when we knew that it was structurally
| different. Less than 8% of an ELF is the header, but boy howdy
| will that thing not run well if you cut it off.
| TheJoeMan wrote:
| Calling the "junk DNA" a "header" is closer to what it may
| do, but still slightly different because in computer software
| a header is still read with the same codec (bits) as the
| data, much like DNA is usually read with the protein codec.
|
| Instead, we are learning the "unknown" DNA performs
| biological functions due to its physical nature, such as
| physically blocking things from binding.
|
| Imagine if a small section of a hard drive was so strongly
| magnetized that it repulsed the read head - if you were
| trying to translate it into binary it would appear to be
| nonsense.
| oofbey wrote:
| The term "junk DNA" was coined very early in our understanding
| of DNA. Even when we had no idea what it was for, very few
| respectable geneticists actually believed it was "junk" - basic
| evolutionary theory argues pretty strongly against it. But the
| name has stuck around for far longer than it deserves to.
| ma2t wrote:
| Basic evolutionary theory may argue that most of it is "junk"
| in the sense of being non-functional (even though some may be
| species-specific or under selection too weak or recent to be
| detectable). One paper that lays out this argument has title
| with the memorable beginning "On the Immortality of
| Television Sets."
| https://academic.oup.com/gbe/article/5/3/578/583411
| mateo1 wrote:
| >basic evolutionary theory argues pretty strongly against it.
|
| That's not true. Over millenia leftover chunks of DNA can
| accumulate for no good reason. Duplication mistakes, viral
| infections etc. The term junk dna originated from the initial
| assumption that all noncoding dna was useless. Evolutionary
| theory has nothing to do with this.
| fabian2k wrote:
| There is a huge difference between "large parts of it are
| useless" and "all of it are useless". And large parts of
| the non-coding DNA are probably useless, unless you're
| extremely generous with what counts as "function" when
| examining this.
| [deleted]
| axg11 wrote:
| Context: I have a PhD in genomics
|
| The label "junk DNA" was one of the biggest mistakes in the
| history of genetics. A lot of high school textbooks still
| reference this term and it's worse than misleading.
|
| In many ways, non-coding DNA is just as important as the parts
| of the genome that code for proteins. Non-coding DNA determines
| expression levels, genome confirmation (shape), and replication
| efficiency among other things.
|
| The term junk DNA misleads students into thinking that these
| sections of DNA play little part in how a cell functions. Quite
| the opposite, the "junk DNA" is responsible for orchestrating
| the "non-junk" bits.
| cookiengineer wrote:
| Maybe you can answer this: what happened to the new bases
| that papers appeared about around 2011 where the new bases
| were added to the encoding scheme, using 8 instead of 4/6?
| [1]
|
| Isn't DNA represented by TCGA then not "junk" either way if
| they're using the wrong classifications for the bases?
|
| [1] https://www.science.org/doi/10.1126/science.1210597
| alfiedotwtf wrote:
| Question from the peanut gallery: if you were to flip a
| single bit in this junk DNA, are the outcomes only slightly
| different or could they be wildly variable depending on which
| bit was flipped?
| hetspookjee wrote:
| Ha, they might as well call it high yield DNA as in other
| nomenclature.
| ncmncm wrote:
| The usual expression nowadays is "non-coding DNA".
|
| Undoubtedly much of it could be pruned out with no undesirable
| result, but there does not seem to be any ongoing process to do
| that, so stuff piles up. As it will.
| [deleted]
| sockpuppet_12 wrote:
| >Undoubtedly much of it could be pruned out with no
| undesirable result
|
| Such hubris as this is what led us to:
|
| - define DNA we didn't and still don't understand as useless
| "junk"
|
| - call the appendix a useless vestigial organ
|
| - declared "silenced" b-cells useless
|
| The list goes on and on and on... When will somebody compile
| a list of how often science is wrong just to slap the
| arrogance out of people before they cost more time and lives
| with such reckless and impatient reasoning?
| ncmncm wrote:
| There is a very large difference between "much of" and
| "all". And we have at this time no way to distinguish which
| bits are in the "much of" and which the rest.
|
| There is so very much of it that even were the actually-
| junk just 5% of that, it would still qualify as "much of".
| epgui wrote:
| This perspective is true to some extent, but it's counter-
| productive to think of science as being wrong.
|
| You should think of science as the "least wrong" set of
| beliefs we have at any point in time. It will never be
| perfectly right, and every day it's less and less wrong.
| The reason it's so reliable is because it embraces (and
| doesn't dismiss) this uncertainty.
| post_below wrote:
| I don't think it's counter productive at all. There was a
| period of time, when the appendix was (absurdly)
| considered vestigial, that surgeons would remove the
| appendix as a side quest if they happened to have the
| area opened for some other purpose.
|
| That was a terrible idea, but one that was supported by
| science at the time. There are practical reasons to be
| skeptical about scientific assumptions.
|
| Science becomes less wrong faster if we allow history to
| remind us that a lot of what we believe will likely turn
| out to be wrong.
| ncmncm wrote:
| A better example would be irradiating thymus glands.
|
| Appendices are still removed, to this day, and people
| lacking them make do without. A thymus gland is harder to
| dispense with.
| aaaronic wrote:
| Junk DNA is, AFAIK, not actively expressed (used to create
| proteins). It's important, though, in the sense that spacing
| between gene expression sites is a control on which genes get
| expressed under which conditions (so the junk adds necessary
| spacing between important genes).
|
| I did _some_ research on epigenetics during my MS degree.
| Spacing between sites was an important factor in our modeling
| of gene expression.
| chaxor wrote:
| What research have you seen on modeling gene expression? I'm
| genuinely curious, as I haven't really seen many convincing
| _ab initio_ studies towards this. I could see finding certain
| features like this spacing as predictive of perhaps some
| other feature, but I haven 't seen any research that really
| tackles generation of gene expression data from first
| principles and input of DNA sequence. It's my understanding
| that modeling the kinetics is difficult, as we really haven't
| tried making the full network of differential equations. Does
| anyone have a project that points to the 'final solution' to
| this? I know recently there was a paper in cell that modeled
| the cell with the smallest viable genome to predict cell
| division, but that's a bit further away from complete
| modeling of our 30k genes' (much less isoforms) dynamics.
| jashephe wrote:
| Global models of gene expression for an entire cell are
| fairly distant at this point, but there is quite a bit of
| work into modeling transcriptional activity from sequence.
| If you're interested in reading more, a relevant technology
| to search for would be the "Massively Parallel Reporter
| Assay", or MPRA, which couples pools of 104-105+ synthetic
| DNA sequences with RNA sequencing to measure
| transcriptional output. Data from MPRA experiments is being
| used to train models, although these models are not
| anywhere near a point where you could model the gene
| expression of all regulatory elements in a cell; they are
| usually focused on a specific factor or regulatory
| sequence.
| kkylin wrote:
| Not just spacing. The sequence also matters as they serve as
| binding sites for enzymes that can promote or repress the
| expression of downstream genes. As just one (relative simple)
| example of how complicated genetic circuitry can be, I really
| enjoyed & recommend Mark Ptashne's _A Genetic Switch: Phage
| Lambda_ for anyone who doesn 't mind doing some slightly
| technical reading.
|
| Disclaimer: not a biologist, and would be interested in
| hearing from someone more knowledgeble than I, both about the
| Ptashne book and about recommended reading.
| toper-centage wrote:
| Do junk DNA is like code styling and comments in
| programming.
| meowkit wrote:
| Its closer to a config file / internal functions that
| modify the state variables of a system instead of
| generating objects. The junk DNA doesn't explicitly get
| read, but it interacts in nonlinear ways with the
| executable "text" portion of the DNA.
|
| Also disclaimer: My only knowledge of this is from Nessa
| Carey's The Epigenetics Revolution and some additional
| online reading.
| ShroudedNight wrote:
| > spacing between gene expression sites is a control on which
| genes get expressed under which conditions
|
| This makes it sound like it represents control flow rather
| than data. If its presence does / can make a material
| difference on the output encoding, it strikes my non-expert
| ears as actively perilous to label such DNA 'junk'
| amne wrote:
| so DNA is written in Python then. it's settled.
| sterlind wrote:
| and pythons are written in DNA. a fully bootstrapped
| system!
| tazjin wrote:
| * self-hosted system
|
| We still don't know how hard bootstrapping it would be :)
| grishka wrote:
| I remember reading how some of the "junk" DNA turned out to
| be important because while it doesn't make proteins, the
| "non-coding" RNA it gets transcribed into regulates
| something.
| dudeinjapan wrote:
| Didn't you watch the move Twins? Arnold got all the good DNA
| and Danny DeVito got the junk DNA.
| Lammy wrote:
| Or play Metal Gear Solid https://metalgearsaladblog.wordpress
| .com/2016/10/28/liquid-s...
| tehchromic wrote:
| I think it's more that the geneticists have the sense of humor.
| swayvil wrote:
| It's a common trope. Anything that cannot be intellectually
| digested is labeled "junk", ignored and, eventually, becomes
| invisible.
|
| You would be astonished at how much of reality falls into that
| category.
| jas- wrote:
| gerdusvz wrote:
| now at long last we can be... better
| [deleted]
| lordnacho wrote:
| 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?
|
| What does complete mean?
| dekhn wrote:
| No, not all variants of every allele are now mapped. You would
| have to sequence a significant fraction of the human
| population, and imho the very idea of mapping all the variants
| of alleles doesn't quite square with what would be the most
| useful way to understand human genotype to phenotype variation.
| 323 wrote:
| Imagine a sequence in the DNA like this:
| TAAAAAAAAAAAACAAAAAAAAAAG. The way sequencing worked is the DNA
| is split into small parts and then they are aligned back
| together. But if we split the sequence above we might get these
| pieces: AAAAAA AAAAAA AAACAA AAAAAG TAAAAA. You know the first
| and last letter of each piece overlaps, but due to the high
| repetition count of A there is no way to figure out what the
| proper order is.
|
| With new techniques you generate much longer pieces, so there
| is much less confusion.
| awenger wrote:
| Complete here means the full end-to-end sequence of all
| chromosomes in a single human cell line named CHM13. The
| typical human cell has 46 chromosomes, in 23 pairs (one from
| our mother, one from our father) named chromosome 1, chromosome
| 2, and so on. This CHM13 cell line is special is that each of
| its pairs is (nearly) identical. Each chromosome is a long
| string of A,C,G,T nucleotides. So, this complete genome is a
| full set of 23 sequences without any "not sure" positions or
| "gaps" in the sequence.
|
| One common analogy is to consider the genome sequence (a.k.a.
| assembly) as a map. Since the initial publication of the human
| genome in the early 2000s, most regions of human DNA has been
| known in full resolution. Other portions, most prominently the
| repetitive centromeres that lie at the middle of chromosomes,
| have remained unmapped. It was known that they exist,
| approximately how big they were, and which types of sequences
| lay inside, but the full order of the sequence had never been
| determined for any human genome until this work.
|
| You could consider the genome like the earth and the
| centromeres like a dense rainforest. Previously we had detailed
| maps of most of the earth, and we had mapped the boundaries of
| the rainforest and had satellite-level images (i.e. we knew
| they were full of plants). Now we have on-the-ground pictures
| with full detail.
|
| Having a map of these sequences makes the accessible to study.
| One of the most valuable uses of the human genome is as a
| shared coordinate system used by scientists to compare
| different individuals and identify and name genetic variants
| that explain human traits. We lacked that coordinate system for
| a big chunk of the genome until now.
|
| As you say, this paper reports the sequence of a single human
| cell line named CHM13. Each of us has a slightly different
| genome sequence (really two of them, one from each parent). Now
| when scientists sequence the genomes of more individuals, they
| can look at these regions that were previously ignored.
| Certainly understanding those regions will improve our
| understanding of human biology. Exactly how much will remain to
| be seen.
| shpx wrote:
| > The typical human cell has 46 chromosomes, in 23 pairs
|
| Mitochondria have their own DNA, which is also sequenced.
| Eduard wrote:
| What's a cell line, and do we know anything about who CHM13
| is?
| tonto wrote:
| chm13 is from a "complete hydatidiform mole"
| https://en.wikipedia.org/wiki/Molar_pregnancy and the paper
| says "Local ancestry analysis shows that most of the CHM13
| genome is of European origin, including regions of
| Neanderthal introgression, with some predicted admixture"
| and fig 1 shows a cool breakdown of the regions of the
| genome with different ancestries
| sapsan wrote:
| Seems to be an immortalized (telomerase*-transformed) cell
| line from a female fetus with near-complete homozygosity (h
| ttps://sites.google.com/ucsc.edu/t2tworkinggroup/chm13-cell
| ...).
|
| * Telomerase is a reverse transcriptase that allows to
| achieve replicative immortality
| (https://academic.oup.com/hmg/article/9/3/403/715108).
| busyant wrote:
| From the Science article:
|
| _" However, limitations of BAC cloning led to an
| underrepresentation of repetitive sequences, and the
| opportunistic assembly of BACs derived from multiple
| individuals resulted in a mosaic of haplotypes. As a result,
| several GRC assembly gaps are unsolvable because of
| incompatible structural polymorphisms on their flanks, and many
| other repetitive and polymorphic regions were left unfinished
| or incorrectly assembled (5)."_
|
| Looks like there were "gaps" in the sequence due to technical
| limitations associated with the original sequencing methods and
| the authors have filled in those gaps. I haven't read the full
| paper, though.
| vaylian wrote:
| > 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.
|
| (from the paper itself)
|
| 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.
| tonto wrote:
| y-chromosome was added since the preprint was made
| https://twitter.com/aphillippy/status/1509594880623796226 and
| was made from the hg002 cell sample (which is heavily analyzed
| by the genome in a bottle project
| https://www.nist.gov/programs-projects/genome-bottle)
| [deleted]
| jghn wrote:
| 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.
|
| Investing in organizations such as H3Africa will be important.
| jahewson wrote:
| I don't think it's "more important", without a reference genome
| it's impossible to take the next step and the Human Genome
| Project successfully took us from 0 to 1. Going from 1 to n is
| much easier. The Human Pangenome Project is working on this and
| should have 350 diverse genomes sequenced within the next
| couple of years.
|
| Note that this has nothing to do with collecting variations in
| individual genes - that's easy and widely available. But about
| collecting variations in the actual content and structure of
| the genome. e.g. Some populations have a bunch of extra DNA
| that most other humans lack, amazing.
| yoyopa wrote:
| when can i grow a second a set of arms?
| ineedasername wrote:
| If you're in the US you have the Constitutional right to bear's
| arms. I'd choose grisly bear, or maybe panda.
| akira2501 wrote:
| That's just the Homeobox[1] genes. They're actually incredibly
| simple given their complex function.
|
| [1]: https://en.wikipedia.org/wiki/Homeobox
| tyjen wrote:
| 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.
|
| 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.
| ak217 wrote:
| > it's referring to base pair variations
|
| No.
|
| > The title is on the sensationalistic side when you consider
| how most lay people will interpret it.
|
| The title refers to a large scientific collaboration that has
| succeeded in utilizing single-molecule sequencing technology
| that only matured in the last 3-5 years to sequence regions of
| the human genome that were previously unmapped, bringing the
| completeness of the mapping to 100%. That doesn't seem
| sensationalistic.
| paulf5678 wrote:
| dymk wrote:
| xbar wrote:
| Is it free?
| smoldesu wrote:
| I think most people ship with a copy from birth.
| bqmjjx0kac wrote:
| Can't wait for v2 to ship. Maybe it will have drivers for the
| latent psychic hardware.
| smegger001 wrote:
| I would settle for a plugin api and a descent man file
| mmmrtl wrote:
| https://github.com/marbl/CHM13/commit/85644b74e188aa2124943
| b...
|
| v2, now with a Y chromosome
| paskozdilar wrote:
| Yeah, but it's in compiled form. Average person does not
| possess tools or skills to read the code and see what it does
| or modify it's behavior.
|
| We need to stop using proprietary genomes. Free genomes, free
| society.
| brimble wrote:
| I'm pretty sure there a bunch of very popular, high-traffic
| sites with tons of content that demonstrates the build
| process.
| dotancohen wrote:
| This guy's interested in reading the make file. Those
| sites just show people running make.
| brimble wrote:
| There are sites to cater to those who prefer reading
| about the build process, too. Uh, so I hear.
| wonderwonder wrote:
| 2013 Supreme court case Molecular Pathology v. Myriad Genetics,
| Inc says yes. Although I would guess the right to read the
| results of the study are not necessarily free.
| ece wrote:
| https://www.ncbi.nlm.nih.gov/assembly/GCA_009914755.4#/def
| awenger wrote:
| The data from the project is released to the public domain
| (CC0). The research article is also free to access.
|
| See https://github.com/marbl/CHM13 and
| https://www.science.org/doi/10.1126/science.abj6987.
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