Saturday, September 29, 2007

daddy finally got his Science paper

yep, now i can die, right? ok, just kidding. in the field of scientific research, whether academic or industrial (though certainly more so in the former), our work - and by extension, we - are recognized/judged by publications in peer-reviewed journals. one such (prominent) journal is the weekly Science. one of the projects on which i have worked the longest during my year at 454 Life Sciences was published last week in this journal - electronically for now, but it will be in the print edition next month. needless to say it is always rewarding to see one's work in "print", especially when it is the culmination of many months of hard work. i (along with Lorri) have been on some nice papers in the past (but not tons due to my mostly industry-based career), but it's great to be one of the primary authors on a publication of this quality and potential impact.

this project, which was done in collaboration with a number of researchers at Yale University, concerned a new approach for looking at the differences in our genomes - the collection of DNA that comprises our chromosomes, found in (nearly) all of our cells. you have likely heard that you and i are >99% similar at the DNA level, so that makes that 1% difference pretty interesting, right? for some more background on this topic and the study, i'd recommend Scientific American's take on this, a 454 press release, or perhaps this ScienceDaily article.

as far as the paper itself, i'll summarize: at 454 we developed a new technology which we applied to look in detail at the human genome, specifically with respect to uncovering structural variation. we used this approach to study the genomes of two women - one European, one African, and looked at the differences between them and also as compared to the latest human genome reference sequence (remember the Human Genome Project?). this involved an enormous amount of computation and data analysis, which was carried out by our collaborators at Yale. in total we identified more than 1000 structural variants, many of which could potentially affect genes based upon their location - and therefore disease susceptibility, drug reponse, etc. what does this all mean? it's impossible to say right now. however, what we have done is created a powerful new tool/approach, and a very large set of data on which we and other scientists can follow up. like any good study this is only the beginning...

PS - see, Jarod? i'm trying hard to write about topics other than Arwyn :) stay tuned for a post on Lorri's latest project: the chicken/duck coop!

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