Rochester, Minnesota




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, whole-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 Mayo Clinic's Clinical Genome Sequencing Laboratory from 2015 to 2017, he oversaw genomics data processing for clinical practice and investigated the implications of genetic cancer predisposition testing, including how to bring research findings into clinical practice.

Of special interest are ongoing collaborations with the Department of Laboratory Medicine and Pathology, in which Dr. Hart is developing artificial intelligence (AI) algorithms in the new subfield of digital pathology. In particular, he is interested in correlating genomic signatures with histologic features from hematoxylin-eosin (H&E) slides to decrease unnecessary testing procedures and identify patients who would benefit from genetic predisposition testing.

Focus areas

  • 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. From 2015 to 2017, Dr. Hart served as associate director of bioinformatics in Mayo's Clinical Genome Sequencing Laboratory, where he oversaw 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.
  • High-throughput truthing. Dr. Hart is also involved in large-scale initiatives relating to AI methods in digital pathology, including supporting development of methods and tools to establish and use ground truth for validating AI and machine learning (ML) or other digital pathology tools and applications.

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.

Professional highlights

  • Group leader, ML/AI Model Creation, Pathology Innovation Collaborative Community, 2020-present
  • Member, AI/ML Task Force, Digital Pathology Association, 2020-present
  • Recipient, Distinguished Poster Award for Postdoctoral Research Fellow, Mayo Clinic Young Investigator Research Symposium, 2012
  • Madison and Lila Self Graduate Fellowship, Kansas University Medical Center, 2006-2011


Primary Appointment

  1. Senior Associate Consultant - AI, Division of Computational Pathology and AI, Department of Laboratory Medicine and Pathology

Joint Appointment

  1. Senior Associate Consultant -AI, Computational Pathology and AI, Department of Quantitative Health Sciences

Academic Rank

  1. Associate Professor of Biomedical Informatics


  1. PhD - Pharmacology University of Kansas Medical Center
  2. BS - Biotechnology Missouri Western State University

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