University scientists have access to firm’s GenomePooling and Reflex technologies.

Population Genetics is teaming up with University of Oxford scientists on a series of studies to identify genetic variation associated with myocardial infarction, diabetes, and metabolic diseases. Under terms of the agreement the university will have access to Population Genetics’ GenomePooling™ and Reflex™ technologies. GenomePooling is an approach for the targeted sequencing of noncontiguous regions across large populations of genomes, to facilitate the identification of genetic variations that correlate with phenotype. Reflex is a method for sequencing long contiguous regions such as whole genes, including coding and noncoding regions.

One of the first two studies between the University of Oxford and Population Genetics will exploit the GenomePooling technology to evaluate 74 exons from 12 genes across 1,000 genomic DNA samples, to try to identify genetic variations associated with diabetes and metabolic disease. Data from this project will be incorporated into a wider initiative led by the National Institute for Health Research, which is establishing a BioResource of volunteers taking part in research mapping genotype to phenotype.

The second project will use the Reflex workflow to study 3,000 samples and identify genetic variants implicated in myocardial infarction. This program will be carried out in collaboration with the European Procardis initiative, which is studying the molecular basis of coronary artery disease.

“Population Genetics gives us an efficient way to validate hypotheses through identification of variants in candidate genes associated with common human diseases,” comments Mark McCarthy, M.D., Robert Turner professor of diabetes at the oxford Centre for Diabetes, Endocrinology and Metabolism, who is heading the diabetes and metabolic disease partnership. “This partnership will make a valuable difference in our ability to progress our studies toward clinical application.” 

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