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Scientists map first ever full human genome

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SCIENTISTS have announced that they have mapped the human genome with no gaps for the first time 19 years after the Human Genome Project completed an “essentially finished” version.

A group of about 100 scientists, under the aegis of Telomere-to-Telomere (T2T) Consortium, published this milestone in the latest edition of The Journal Science, calling their discovery “the most complete human genome yet.

According to Elizabeth Pennisi, in an introductory article to the project, their findings were first announced in 2021, but this week marks the formal publication of the research.

“The original sequence did not include about 8% of the human genome, primarily because the technology available at the time was not reasonably able to decode it, according to researchersfrom the project.  Some called it “junk DNA,” but other researchers over the years found evidence it could contain clues about issues from autism to aging to otherwise unexplainable diseases, experts told Stat in 2017,” she said.

According to leader of the original research team, Eric Lander, it was hard to decode certain portions of the genome because when computers read DNA, they essentially take apart a puzzle and see which pieces match up. But “junk DNA” areas were often very repetitive, so if pieces of the puzzle are too similar, it’s hard to match them.

Similarly, Adam Phillipy of National Human Genome Research Institute, who helped with the project, said “now, new computing power means that our puzzle pieces just got way bigger, and that allowed us to put these regions of the genome back together again.”

But experts say the new reference genome could help scientists figure out which genes contribute to various disorders, why certain cells become cancerous, and more variations from person to person, such as tolerance for high altitude apart from being another step closer to everyone having easy-breezy access to their own genome.

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