27.5.09

The New and Improved Mouse Genome, now with Open Access

One would be forgiven for being confused by the recent headline (BBC):

Scientists have finished sequencing the mouse genome after a 10-year effort.

Mouse geneticists have been using the mouse genome as a resource for years, so what does it mean that they have recently finished the mouse genome? Wasn't that published in 2002? No, actually that paper was appropriately titled "Initial sequencing and comparative analysis of the mouse genome" and while it was chock full of information it is, apparently, only the initial sequencing effort. The same thing happened with humans, the draft genome was published in 2001 but it wasn't so long ago that the finished genome was announced, to much fanfare. So now we are presented with the finished genome assembly of the mouse.

The problem with both is that there are always gaps in the sequences, even in humans. There are regions of the genome that are poorly assembled or not even sequenced because they are unique to individuals who have not been sequenced yet. That's really amazing actually, a paper that came out last year did a thorough screen for insertions (measured against the reference genome) in eight individual (African, Asian and Caucasian) and came up with 525 regions of novel sequence insertions, a couple as large as 130,000 bases (yes, that is large). The mouse genome is still being analyzed, and wild mice are poorly underrepresented in the reference sequence, which is exactly where abundant genetic variation resides. There is undoubtedly more information on the way.

Nature, which published the original (initial) sequencing paper has a nice timeline of mouse as a model organism set up.

OK, the other big news these days is the apparent discovery of the missing link. The unique (for biology) hype and marketing surrounding the publication of this finding have been discussed elsewhere. There is one thing particularly interesting for both the publication of the finished mouse genome and the missing link paper. These are both papers which (I'd bet) could have easily made it into Nature or Science, the two pan-science publishing powerhouses, but both appeared in Public Library of Science (PLoS) journals. The major distinction is that PLoS is completly open access, so everyone, not only institutions with expensive licences, can read the fruits of scientific pursuit. PLoS Biology is as highly regarded as Nature and Science by this point and many scientists are starting to specifically publish in open access because they resent the restrictions that the closed journals put on their work. Kudos to the authors of both publications.

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