Our research uses the latest genome-wide genotyping and next-generation DNA sequencing platforms in order to make genomic variation detection rapid and inexpensive. The three main avenues of research in our laboratory include:
- Developing open source software tools that speed the planning, implementation, analysis and interpretation of genome-wide datasets
- Conducting studies whose goals include identifying genetic variants contributing to autism susceptibility, with a special emphasis on variants located on the human X chromosome.
- Characterizing the role of copy number variants (CNVs) as causative factors in atrio-ventricular septal defects in children with Down Syndrome.
In all of our studies, our ultimate goal is to understand how variation in the genome contributes to variation in important phenotypes in human and model systems.