Recorded: 08 May 2008
Yeah. Let me try to summarize a little bit what we received. So the one database that is the most recognized database for genetic variation is the database called the Online Mendelian Inheritance in Man Database, the OMIM database by McCusik. And he did a fantastic job with him and his team to add a lot of this genetic differences and variation into his database. And they’re doing a tremendous job reading the literature and then entering it into the system. Now, they don’t know anything about genomics. So one of the things that we had to do is we had to take all these entered alleles, the 15,000, and we had to map them to the genome. So that was actually one of the big projects that we undertook, to map them to the genome. That took quite a while. But we did it, so it was done.
And then what we did is we ran these 15,000 genetic alleles that McCusik had put in, against Jim’s genome. And we wanted to see what is he carrying, what is he not carrying, of these 15,000? It was very, very surprising was… I can tell you we found that he has 75  only of these 15,000 variants. Now these are variants that are clinically relevant. So we expect them to be very rare because they have an effect on your life. It’s very complicated if you have them, especially in the homozygous state, it’s deleterious; it is really dangerous for you. So we didn’t expect to find a lot, but we only found 71. So we were like whoa….this is really surprising. Clearly this is a first pass, so this will change over the next couple of months. And you know, the data that they sequenced was only sevenfold so it was not high quality. We expect actually to find more in the future. But it’s a good pass. And what we were really surprised is that we found very few. So, I can tell you that in the homozygous state we only found six, and in the heterozygous state we found 65. So the heterozygous state doesn’t mean very much for him, but of course for his offspring. And in the homozygous the six that are really changes on the position, we basically analyzed them a little bit, and what is relevant. So, the first finding was that it was a very few. Now, he’s an 80 year old healthy individual, so if you think about it, actually it is quite a bit in agreement with what we expect.
Martin Reese is the Co-founder, Chief Executive Officer, and Chairman of the Board of Omicia.
Dr. Martin Reese is an internationally recognized expert in medical informatics and bioinformatics with a track record of bringing strong, grounded scientific knowledge to the corporate sector. Prior to founding Omicia, Dr. Reese served as Vice President of Discovery Informatics for ValiGen. He organized the state-of-the-art Genome Annotation Assessment Project and was a member of the Berkeley Drosophila Genome Project. This project provided the essential proof-of-concept platform for Celera's famous shotgun sequencing technology, which is now internationally recognized - as driving a new standard of excellence in sequencing. It was while at the Lawrence Berkeley National Laboratories that Dr. Reese developed gene-finding algorithms for the Human Genome Project. He holds a Masters degree in Medical Informatics from the University of Heidelberg and a Ph.D. in Genetics jointly from the University of California, Berkeley and the University of Hohenheim, Germany.