Gabor Marth’s computational genomics laboratory is at the USTAR Center for Genetic Discovery, in the Department of Human Genetics, at the University of Utah. We develop software tools for genomic data analysis using a combination of biological, statistical, and engineering approaches to accurately detect inherited genetic variations and somatic tumor mutations; to understand tumor evolution at the subclonal level; and web-based, highly visual, real-time interactive tools for intuitive analysis of genomic big data. Working together with computational biologist colleagues at our Center, clinical collaborators at the University of Utah Medical School and the Huntsman Cancer Institute, diagnostic clinicians at the ARUP reference laboratory, we are building computational tools for medical discovery and personalized medicine.

Our recent projects include the development of the popular FreeBayes genetic variant caller program, built as part of the 1000 Genomes Project, driving fast whole-genome sequence analysis. We are developing innovative, reference-free and graph-based methods for detecting de novo variants in families and somatic mutations in tumors. We our adapting our SubcloneSeeker tumor subclone reconstruction tool to elucidate subclone evolution in patients as they progress through multiple courses of chemotherapy, for insight into the genetic causes for chemoresistance, and to offer treating oncologists guidance for choosing the next course of treatment. We are excited about our IOBIO project in which we developed a number of real-time analysis web apps for “at a glance” inspection of large genomic sequence alignment and variant files ( and; and for powerful, interactive, gene-focused disease variant analysis and prioritization ( These tools form the underpinnings of intuitive, real-time interactive workflows for disease gene discovery and clinical diagnostics.