As a collaborative scientist in Mayo Clinic's Bioinformatics Core, Steven N. Hart, Ph.D., focuses his research on the application of next-generation DNA sequencing analysis in large-scale sequencing projects, including several whole-genome, -exome and targeted custom capture sequencing projects for inherited cancer predisposition.
Dr. Hart led the development of the GenomeGPS DNA sequencing workflow, the primary analytical pipeline for all genomic sequencing at Mayo Clinic. As associate director of bioinformatics for the Clinical Genome Sequencing Laboratory from 2015-2017, he oversaw genomics data processing for clinical practice and investigated the implications of genetic cancer predisposition testing and how to bring research findings into clinical practice.
Of special interest are ongoing collaborations with the Department of Laboratory Medicine and Pathology, where Dr. Hart is developing artificial intelligence algorithms in the new subfield of digital pathology. In particular, he is interested in correlating genomic signatures with histologic features from H&E slides to decrease unnecessary testing procedures and identify patients who would benefit from genetic predisposition testing.
- Application development. Dr. Hart has developed several bioinformatics tools that identify large genetic rearrangements, present complex data in meaningful ways and simulate genomics data.
- Clinical Genome Sequencing Laboratory. As associate director of bioinformatics in Mayo's Clinical Genome Sequencing Laboratory, Dr. Hart oversees the bioinformatics components necessary for transforming new sequencing-based assays into clinical tests.
- Cancer genomics. Dr. Hart works toward integrated next-generation sequencing data analysis of multiple genomic features, such as gene expression, copy number and mutations, to better understand their association with patient outcomes and identify potential therapies.
- Inherited cancer risk. Dr. Hart's team is sequencing the genes of thousands of samples to identify new genes that predispose people to develop breast, ovarian or prostate cancer.
Significance to patient care
Dr. Hart is on the forefront of bringing new high-throughput technologies into clinical practice. These technologies can identify disease-causing mutations, assess individual genetic risk for developing cancers, optimize drug dosing for patients with certain genetic variations and much more.
- Distinguished Poster Award for Postdoctoral Research Fellow, Mayo Clinic Young Investigator Research Symposium, 2012
- Madison & Lila Self Graduate Fellowship, Kansas University Medical Center, 2006-2011