Gabor Marth, D.Sc.

Dr. Marth is Professor of Human Genetics and Co-Director of the Utah Center for Genetic Discovery at University of Utah Health Sciences Center. He is an internationally recognized expert in the analysis of DNA sequence variations. Dr. Marth and his group played a key role in the development of methods and software that support the use of high-throughput sequencing technologies to study DNA variation on large scale, and led the design of standardized formats (SAM/BAM, VCF) that have now been widely adopted by the genomics community as the common currency for storing genomic sequencing data. Dr. Marth and his laboratory are currently at the forefront of developing computational algorithms for precision oncology: tracking cancer patients’ tumors as they progress across chemo-resistance, relapse, and metastasis; and using advanced genomic, tumor modeling, and drug screening approaches for personalized cancer treatment. As part of NHGRI’s Undiagnosed Disease Network, Dr. Marth and his team develop computational algorithms for discovering the genetic causes of common and rare diseases, and a comprehensive web tool system for rare disease diagnostics. He serves as Principal Investigator on academic and small-business research projects funded by the National Human Genome Research Institute, the National Cancer Institute, the National Center for Advancing Translational Sciences, the Simons Foundation, the Margolis Family Foundation, and the Utah Science Technology and Research Initiative. Dr. Marth is leading the Genomics of Advanced and Complex Cancers Initiative, and organizes the Single Cell Genomics working group at the University of Utah and Huntsman Cancer Institute. He serves on the Scientific Advisory Boards of the Ontario Institute of Cancer Research Adaptive Oncology Program, Canada’s Genomic Enterprise, and the Galaxy Project. Dr. Marth is co-founder and Chief Scientific Officer of Frameshift Genomics, Inc., a technology startup company building web tools for genomic data management and visual analytics.

Global Impact