| Stephen P.A. Fodor |
 |
|
|
 |
 |
|
[Slide 36]
[Slide 37]
[Slide 38]
[Slide 39]
[Slide 40]
[Slide 41]
[Slide 42]
[Slide 43]
[Slide 44]
[Slide 45]
|
[Slide 36,37]
If we can find the patterns of human variation, we can start to think about how to group people according to their common genetic traits. So, for example, we might find that Ichiro and Michael Jackson have a lot of common sequence variations in some part of genome or we might find that the Pope, Queen Elizabeth, and Bin Laden are similar in other parts of genome. In the future, scientists will use microarrays to further analyze and understand the importance of genetic variation.
[Slide 38,39]
Now that we have most of the human genome sequence, we can think about making arrays containing the entire human genome sequence. Recently, Affymetrix created a new company called Perlegen Sciences and recruited Professor David Cox from Stanford to head up a program to study human genetic variation.
[Slide 40]
Instead of using single chips that contain around five hundred thousand unique pieces of DNA, researchers in this company are using a pre-commercial form of the technology that analyzes sixty million pieces of DNA simultaneously. It takes around two hundred and thirty of these sixty million probe array wafers to scan the human genome at single base resolution.
[Slide 41]
To put this into perspective, I think you all have heard of the DNA sequencers that were used to sequence the human genome. It turns out that one technician running three of these large wafers per day is equal to the output of one hundred DNA sequencers running for 24 hours.
[Silde 42]
Perlegen recently completed a study that scanned fifty human genomes for their single base variation patterns and reported the results for chromosome 21 in the December issue of Science.
[Slide 43]
The data showed that in any given section of the human genome, the population is represented by a very small number of patterns. If we can understand these patterns and can relate them to different aspects of human health, we can go a long way in understanding individual differences, including disease susceptibilities, etc.
[Slide 44]
We have developed assays that will allow individual researchers to study these patterns. In fact, we have demonstrated the ability to look at ten thousand of these markers across the genome with essentially a one tube assay.
[Slide 45]
Each of these markers has been mapped across the human genome and again we freely publish their sequence identity and position on our website.
|
|
|
