Leveraging large biobanks to accelerate PGx discovery
Our research using large biobanks aims to understand genomic variation and associations with medication response.
With the All of Us research program, we’ve haplotyped >250,000 participants to determine the frequency of variation, examined long read sequencing data to understand complex structural variation, and evaluated potential genotype-phenotype associations in electronic health record data.
Locally, our PGx Center of Excellence takes a population approach through an exciting partnership with Pitt+Me Discovery, the University of Pittsburgh’s DNA biorepository. Genotyping for PGx variation and linkage to high resolution EHR data is enabling discovery not possible with external data sets.