Last year, scientists unveiled the most complete gapless sequence of the human genome ever produced – but it was missing one small piece: the Y chromosome.
of the human genome ever produced – but it was missing one small piece: the Y chromosome.
"Now that we have this 100 percent complete sequence of the Y chromosome, we can 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,"The Y chromosome contains lots of repetitive sequences – including a few long palindromes – that have made it largely 'unreadable' until now.
"The biggest surprise was how organized the repeats are," says Adam Phillippy, a computer scientist at the US National Human Genome Research Institute. Together, the assemblies spanned 183,000 years of human evolution and revealed some surprising variations in the Y chromosome.
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