Breakthrough medical and biological discoveries are often associated with technological advances. To facilitate genomic discoveries, I’ve focused my career on cutting-edge bioinformatics and DNA technologies.
My research areas include both technical and biological/clinical facets. Technically, my team and I are evaluating and designing new applications of sequencing and bioinformatic tools with a specific interest in regions of the genome that are difficult to evaluate with conventional methods. This includes applying next-generation and single-molecule sequencing technologies and associated bioinformatics to repetitive regions of the genome, such as tandem repeats, or to discriminate variants in pseudogenes from their homologous functional genes. In addition, we are also applying these methods to improve detection of structural variants, including copy number changes.
I have a clinical interest in obtaining a better understanding of the fundamental biology of the chromosomal region 22q11.2 that, when deleted, produces the phenotypically diverse 22q11 deletion syndrome. To address this, I’ve applied numerous state-of-the-art genomics technologies to analyze both structural and nucleotide variation in the complex repeat-rich region.
My past work has influenced my research focus at the Cincinnati Children’s Hospital Medical Center. I started with next-generation sequencing when it was in its infancy during my PhD in Leiden, the Netherlands, and have since continued to progress with the technology up-to and including single-molecule sequencing for a variety of basic and medical research applications. In addition to advancing sequencing technology while at the KU Leuven hospital in Belgium, I also began my research into the 22q11 deletion syndrome as well as a general interest in complex structural variation.
I continue to advance genomics medicine by streamlining and speeding up clinical bioinformatics while adopting novel and enhanced sequencing methods.
Over the years, my research has been published in numerous journals, including Trends in Biotechnology, Genome Research, Nucleic Acids Research, Human Mutation and Mutation Research-Fundamental and Molecular Mechanisms of Mutagenesis.
Next-generation sequencing; bioinformatics
22q11 deletion syndrome; single-molecule sequencing; bioinformatics
Assistant Professor, UC Department of Pediatrics