Dave Larson, PhD
Instructor in Genetics
Dr. Dave Larson joined MGI in 2008 after completing a PhD in Developmental Biology at Washington University in St. Louis. His research currently focuses on characterizing genetic variation and its effects on human disease. A major component of this research focuses on understanding the contribution of structural variants (SV) to disease. SV are large (>50bp) genomic rearrangements and affect a large portion of the genome of each individual. However, they have proven recalcitrant to study at scale due to technological difficulties in identifying them from current sequencing technologies. With the advent of large whole genome sequencing projects such as TOPMED and CCDG, data now exist to interrogate the role of a greater range of SV in common disease than ever before. In addition, comprehensive characterization of SV in large numbers of individuals provides critical information for the interpretation of personal variation and rare diseases.
He is currently working to improve the accuracy and scalability of SV detection from these data through a number of mechanisms: 1) algorithmic improvements of existing SV genotyping software to improve both accuracy and sensitivity of detection, 2) software engineering of existing tools to improve scalability, and 3) the development of cloud-enabled informatics pipelines to detect the full spectrum of SV.