Biomarker Discovery

At the core of genome analysis lies biomarker discovery, the ability to identify associations between genetic alterations and disease, and to use this information to further explore individual genes in the context of their resident mechanisms and pathways.

The genome analysis team within DBHi has collaborated extensively with CHOP researchers to identify putative biomarkers of disease. Although we've contributed to dozens of projects in identifying putative biomarkers, our most notable contributions to date are in the areas of attention-deficit hyperactivity disorder (ADHD) and autism. In each case, the genome analysis team served as a core member of the research team to identify genetic associations not previously known.