This is the second project between the two companies; a study to research the genetics of myocardial infarction, or heart attack, was announced in January 2004.
In this study, Perlegen will assay human genetic variants (also called single nucleotide polymorphisms or SNPs) in individuals with the trait of interest (cases) compared to individuals without the trait (controls). This genotyping process reveals which SNPs are associated with the trait exhibited by the cases, also known as the phenotype.
Knowing the genetic basis of a phenotype can be useful in developing improved healthcare. For example, diagnostics can be created using SNPs that will predict susceptibility to a disease or varying response to a drug.
“By better understanding genetics, future healthcare will be greatly enhanced as we move the industry closer to the goal of more effective personalized healthcare and medicines,” stated Brad Margus, CEO of Perlegen.