Human genomics: The genome finishers (That pdf link is restricted access.)

Nature News ^ | 16 December 2009 | Elie Dolgin

[neverdem]

Dedicated scientists are working hard to close the gaps, fix the errors and finally complete the human genome sequence.

...Deanna Church has few distractions from the job that lies before her. On her computer sit 888 open 'tickets', or outstanding problems with the human genome sequence. Although that number fluctuates, it's a not-so-subtle reminder that she and her team at the National Center for Biotechnology Information (NCBI) have a long way to go...

--snip--

By April 2003, the sequencing had surpassed the international project's technical definition of completion — the sequence contained fewer than 1 error per 10,000 nucleotides and covered 95% of the gene-containing parts of the genome. But there were still errors — around 350 gaps in the sequence — and much of the structural variation was not...

--snip--

The third goal reflects something that has only recently come to light. At first, researchers assumed that genetic variation between people largely consisted of differences in single DNA letters. Now, however, they better understand the extent of structural variations — including deletions, insertions, duplications and inversions.

--snip--

They then compared it against seven other common European haplotypes and discovered more than 37,000 single DNA letter differences and around 7,000 structural variations — a level of genetic diversity about an order of magnitude greater than the genomic average6.

--snip--

Should it be calculated across the world's six billion-plus residents or just in a particular ethnic or geographic group? Results emerging from the 1000 Genomes Project, a major international sequencing effort to catalogue human genetic variation in around 2,000 people from across four continents, should inform their decisions.

--snip--

For researchers interested in a particular disease-relevant locus "it doesn't matter that the genome may be 99% complete", she says. "If they're [working with] a region that's incomplete and wrong, they're screwed."...

[neverdem]

Check the remaining gaps.

It's more like they're finally appreciating what human diversity actually implies.

[The Comedian]

Liberalism is a genetic disease.

Find the sequence, and cure it.

Frowning takes 68 muscles.
Smiling takes 6.
Pulling this trigger takes 2.
I'm lazy.

[pieceofthepuzzle]

DNA is just one way to store information. Just like we've seen floppys, zip drives, optical storage, thumb drives, CDs, DVDs etc. there will likely be found many, many ways in which biological information is stored and propagated.

[neverdem]

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FReepmail me if you want on or off my health and science ping list.

[neverdem]

DNA is just one way to store information. Just like we've seen floppys, zip drives, optical storage, thumb drives, CDs, DVDs etc. there will likely be found many, many ways in which biological information is stored and propagated.

Let me know when they find something else besides DNA and RNA for a genetic code when an organism reproduces.

[SunkenCiv]

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