Genomics

Genomics

With advancements in Next-Generation Sequencing (NGS) technologies, it has now become possible to sequence the entire human genome for costs approaching $1,000. This gives genetic researchers unprecedented tools to discover how genes are involved in human health. However, the amount of data generated in a single whole genome sequencing run is incredibly large creating a bioinformatic choke hold on gene discovery.

During my postdoctoral work, we used a simplified model of genomic analysis to find genes involved in disease. Through the Developmental Genome Anatomy Project (DGAP), we would identify genes involved in congenital disease through NGS techniques that allowed identification of nuclear level breakpoints. Once the gene was identified, our development of convergent genomic techniques allowed us to determine how likely the gene was to be involved in the subjects particular disease and similar diseases in the greater population. This work has led to the discover of several novel genes involved in diseases including craniofacial dysmorphia, autism, hearing loss and cancer.