What was once the final frontier of the human genome -- the Y chromosome -- has just been mapped out in its entirety. Scientists used advanced sequencing technologies to read out the full DNA sequence of the Y chromosome -- a region of the genome that typically drives male reproductive development. The results demonstrate that this advance improves DNA sequencing accuracy for the chromosome, which could help identify certain genetic disorders and potentially uncover the genetic roots of others.
What was once the final frontier of the human genome -- the Y chromosome -- has just been mapped out in its entirety.
A reference genome is a separate, already pieced-together genome that serves as a guide, similar to the pictures on the front of puzzle boxes. And because 99.9% of our species' genetic code is shared, any human genome would closely match a reference. With this new endeavor, T2T was not starting at zero as the GIAB had already gotten the ball rolling.The GIAB's mission is to produce test materials, or benchmarks, that can be used to evaluate sequencing technologies or methods. The materials themselves are highly accurate readouts of specific genes that can act as an answer key for checking the results of a particular sequencing method.
A machine-learning analysis tool and gamut of other advanced programs helped the team identify and assemble the pieces of the chromosome. More than 62 million letters of genetic code later, the authors had spelled out the GIAB Y chromosome front to back.
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