Human Y chromosome completely sequenced

[beschizza]

Originally published at: Human Y chromosome completely sequenced | Boing Boing

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[theophrastus]

there are so many choices on where to put the finish line we can post the story every three years like clockwork.

Absolutely! We’ve no idea where most human phenotypic variation arises (bring on the identical twin studies), and the majority of sequences which encode proteins don’t have their functions clearly delineated, and there’s the vast regulatory (how/when genes are switched on and turned off) to elucidate; and much much more. Encourage your children to the sciences! Endless discoveries to be made and pathologies to be conquered. Ain’t gonna become star striding immortals just by posting vids to tiktok.

[jhbadger]

If you’re thinking “didn’t we do this decades ago?” the answer is “not really.” They were sampled and statistical inferences used to map them.

That’s not quite the issue. This sequence was also created by sampling and assembling the raw sequences with statistical algorithms. You can’t really get away from that. What this version used were reads that were much longer than the ones used twenty years ago and so the the assembly should be more accurate and include the very repetitive telomere sequences that are notoriously hard to assemble with short reads.

[Brainspore]

@beschizza

As a result, more than half of the Y chromosome is missing from the GRCh38 reference sequence and it remains the last human chromosome to be finished.

Interesting, I remember that “the Y chromosome is tricky to sequence” thing was a plot point in the by Brian K. Vaughan/Pia Guerra comic series Y: The Last Man but it’s interesting to learn more about why.

[MrShiv]

@beschizza

it remains the last human chromosome to be finished

This phrasing is kind of odd. If Y was the last to be finished, won’t it remain so for the rest of time? Unless another human chromosome is discovered, which seems unlikely, or humans evolve a new one.

[jhbadger]

The team leader of the project (Adam Phillippy) has been using long read technology to create complete telomere-to-telomere reference sequences of all the human chromosomes for several years. This was the last one of the set.

[MrShiv]

Yeah, I got that part

[FGD135]

[gatto]

@theophrastus

Ain’t gonna become star striding immortals just by posting vids to tiktok.

coincidentally this is the plot of the last starfighter remake

i jest. i think.