A team of researchers claimed it has recently filled in millions of missing pieces of human DNA that yield the human genome's most complete, gapless sequence ever produced, barring a single tiny chromosome.
The feat, a ScienceAlert report specified, made possible, ever-enhancing genome sequencing technologies, and a consortium of over 100 scientists has set a new benchmark for deciphering human genetic diversity "in all its glory."
A momentous achievement. Scientists have finally completed the #HumanGenome – sequencing the remaining 8%. This will further our understanding of how the genome works, shed light on #HeartDisease, and help us uncover new variants: https://t.co/0VtVZLxqnY#ScienceTwitter #T2T
— Victor Chang Cardiac Research Institute (@VictorChangInst) April 1, 2022
The researchers have also corrected thousands of structural errors in the previous most complete reference genome during the process. Such an achievement cannot be understated. Specifically, it holds a huge possibility for understanding the evolution and disease of humans.
According to bioinformatician Adam Philippy of the United States National Human Genome Research Institute, "Truly finishing the human genome sequence," was like wearing a new pair of glasses.
Human Genome Parts, Pieced Together
He added that everything can be seen now, and the research team is one step closer to understanding what this means.
Since the launch three decades ago of the Human Genome Project, genetic sequencing technologies and the data-processing pipelines have been getting faster, more cost-oriented, and more accurate, enabling scientists to sample, sequence, and compare more genomes with each passing year.
However, large chunks of DNA, amounting to roughly eight percent of the human genome, still went missing from the most recent reference sequence that researchers are using as a template to assemble newly sequenced DNA specimens.
In this study, published in the Science journal, the researchers have pieced together those human genome parts that have long been "unsequenceable" to assemble a complete reference genome until now.
'Gapless' Genome
According to UC Santa Cruz geneticist Karen Miga, who was head of the consortium of researchers, the parts of the human genome that they have not been able to examine for more than two decades are essential to their understanding of how the genome is working, genetic diseases, as well as human diversity and evolution.
More so, the new "gapless genome," which is now totaling more than three billion bases, could shed light as well on how pairs of chromosomes are getting pulled apart and splitting minus a hatch, the mechanics of so-called jumping genes that hop around the genome, and the perhaps-critical role of stretches of duplicative DNA.
Rajiv McCoy, an evolutionary biologist from Johns Hopkins University, said opening up these new parts of the genome, thin think there will be a genetic variation that contributes to several different traits and disease risks. He added, though, that there is an aspect of this, that's like, it's unknown yet, "what we don't know."
Instead of being a mosaic of sequences collected from many individuals, the newly-minted reference genome was put together using a special type of cell line that has two the same copies of every chromosome, unlike most human cells, carrying a pair of slightly different copies.
According to a related Medical Xpress report, there's still a lot of work needed to finalize the reference genome, although the group has inched ever closer to finally sequencing each last nucleotide from human DNA.
A related report about the complete human genome is shown on Science and tech news's YouTube video below:
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