Re: human-human variation grows!


"spintronic" <spintronic@xxxxxxxxxxx> wrote:

http://www.jcvi.org/press/news/news_2007_09_03.php

"The new estimate based on this data is that genomes between
individuals have at least 0.5% total genetic variation (or are 99.5%
similar) The researchers suggest that much more research needs to be
done on these non-SNP variants to better understand their role in
individual genomics."

Here is the part of the press-release relevant to spintronic's
choice of title:

Within the human genome there are several different
kinds of DNA variants. The most studied type is
single nucleotide polymorphisms or SNPs, which are
thought to be the essential variants implicated in
human traits and disease susceptibility. A total of
4.1 million variants covering 12.3 million base pairs
of DNA were uncovered in this analysis of Dr. Venter's
genome. Of the 4.1 million variations between chromosome
sets, 3.2 million were SNPs. This is a typical number
expected to be found in any other human genome, but
there were at least 1.2 million variants that had not
been described before. Surprisingly, nearly one million
were different kinds of variants including:
- insertion/deletions ("indels"),
- copy number variants,
- block substitutions and
- segmental duplications.

While the SNP events outnumbered the non-SNP variants,
the latter class involved a larger portion (74%) of
the variable component of Dr. Venter's genome. This
data suggests that human-to-human variation is much
greater than the 0.1% difference found in earlier
genome sequencing projects. The new estimate based on
this data is that genomes between individuals have at
least 0.5% total genetic variation (or are 99.5% similar)
The researchers suggest that much more research needs
to be done on these non-SNP variants to better understand
their role in individual genomics.

There is simply nothing new here. We have known for years
that indels, etc. exist, that they can greatly increase the amount
of variation if you count them in bp units, and that the first
draft sequence technologies were relatively incapable of finding these
block polymorphisms while at the same time tending to overcount
single-nucleotide polymorphisms (Is it a polymorphism or a
sequencing error?).

The only thing that should be growing is the realization that every
scientist, whether from NIH or private industry, hypes their own
results and pretends that no one else has ever noticed what they
have noticed.

.

Relevant Pages

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  • Re: human-human variation grows!
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    (talk.origins)
  • Re: human-human variation grows!
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    (talk.origins)
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