"This project sets a new milestone in the search for genetic elements linked to complex genetic diseases such as Alzheimer's, cancer and multiple sclerosis," said co-author David R. Cox, Chief Scientific Officer at Mountain View, CA-based Perlegen. "Genome-wide analysis may soon become a standard methodology in the search for more effective, individualized treatments."
Researchers at Perlegen sequenced the single-letter variations (called single-nucleotide polymorphisms, or SNPs) in the DNA of 71 individuals of European American, African American, and Han Chinese American ancestry. Subsequently, scientists at the California Institute for Telecommunications and Information Technology (Calit2) at the University of California, San Diego, and the UC Berkeley-affiliated International Computer Science Institute (ICSI) helped analyze the set of over 100 million genotypes from the over 1.5 million SNPs sequenced in each sample by Perlegen.
"This is the first time that a SNP data set of that scale is being sequenced," said Eran Halperin, a research scientist at Berkeley-based ICSI. "For each of the 23 pairs of chromosomes in human DNA, the resulting data set consisted of 71 genotypes, which mix together the information from both copies of the chromosome. To see a clearer picture of a variation, we really want to know the variation on each chromosome, and we can do that by inferring haplotypes the sequences of nucleotide bases in
Contact: Doug Ramsey
University of California - San Diego