Communications of the ACM
Scientists Sequence Last Piece of the Human Genome: The Y Chromosome
The Y chromosome contains lots of repetitive sequences–including a few long palindromes–that have made it largely 'unreadable' until now.
Credit: KTSDESIGN/Science Photo Library/Getty Images
The Telomere-to-Telomere consortium led by the U.S. National Human Genome Research Institute's Arang Rhie has completed sequencing the human genome by adding the fully mapped Y chromosome.
The consortium used sophisticated sequencing methods and new bioinformatic algorithms to weave together lengthy DNA segments that have long prevented the Y chromosome's readability.
The researchers filled in more than 30 million missing "letters" in the DNA sequence to chart the Y chromosome completely, covering 62,460,029 base pairs.
They also remedied errors in previously sequenced segments and uncovered 41 new protein-coding genes.
Johns Hopkins University's Dylan Taylor said this accomplishment will allow researchers to "identify and explore numerous genetic variations that could be impacting human traits and disease in a way that we weren't able to do before."
From ScienceAlert
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