Re: Has the human genome been completely sequenced? (even the heterochromatin)

It would seem to me that the length of some repeats could actually be quite

important. Of course telomere length is one, since it seems to be related to
longevity and cancer. But other repeat lengths might also change the three
dimensional structure of the chromosome, making some genes more or less
available for expression. This might make the difference between healthy
function and unhealthy disfunction, or between normal and exceptional in
something like intelligence or athletic ability.

Besides the benefits of having different technologies confirm one another,
this is one of the benefits of technologies that can read a whole genome in
sequence without the need for assemblers.

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On Thu, Dec 1, 2011 at 11:42 PM, Patrik <patrikd@gmail.com> wrote:
You're right, there are still areas around the centromeres and
telomeres which are really hard to sequence and assemble correctly,
because they consist mainly of highly repetitive sequence. However,
because they are so repetitive, there's also very few active genes
there, *and* the repeat copy numbers tend to vary some from person to
person.

So yes, there are still some gaps. But it would take a lot of effort
to close them and in the end it might not tell you that much more
anyway - do you really care if person A has 27 copies of a repeat in
that region, whereas person B only has 26 copies?

Heterochromatin - it's the new "junk DNA" :-D. Who knows; perhaps once
we understand it better, it might turn out just as non-junk as the old
"junk DNA". But for now, it's considered a fairly thankless area to
put much effort into.

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