Gabor Marth, M.D., Ph.D., D.Sc.

Professor, Human Genetics, University of Utah

SFARI Investigator Website

Marth is a professor of human genetics at University of Utah and an internationally recognized expert in DNA sequence variation detection and analysis software development. Marth developed the first probabilistic algorithm for sequence variant discovery, developed several of the most widely used file format standards for genomic data (SAM/BAM and VCF) and developed the first complete software suite for genome-scale analyses of high throughput sequence data. Marth and his group played a leading role in the 1000 Genomes Project.

The Marth research group develops algorithms and software packages for genetic variant discovery and data visualization in high-throughput sequencing data; understanding tumor subclonal evolution leading to tumorigenesis, chemo-resistance and metastasis; as well as web-based tools for interactive, real-time, visually driven analysis of biomedical big data. Marth joined the State of Utah Science Technology and Research (USTAR) Center for Genetic Discovery as co-director in 2014. He chairs/serves on the Scientific Advisory Boards of the Ontario Institute of Cancer Research Program in Computational Biology, Canada’s Genomic Enterprise and the Galaxy Project.

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Funded Projects

Interactions between WGS variation and polygenic risk in ASD

Awarded: 2017
Award Type: Research

Combining whole-genome sequencing data from Utah high-risk pedigrees and Simons Simplex Collection families

Awarded: 2015
Award Type: Targeted: Whole-Genome Analysis for Autism Risk Variants

SFARI Funded Publications

High body mass polygenic risk in mothers enhances de novo functional mutations in epigenetic and microtubule gene pathways in their offspring with autism spectrum disorder. Lohman B., Shabalin A.A., Farrell A., Marth G., Docherty A., Coon H.

Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder. An J.Y., Lin K., Zhu L., Werling D., Dong S., Brand H., Wang H.Z., Zhao X., Schwartz G.B., Collins R.L., Currall B.B., Dastmalchi C., Dea J., Duhn C., Gilson M.C., Klei L., Liang L., Markenscoff-Papadimitriou E., Pochareddy S., Ahituv N., Buxbaum J., Coon H., Daly M., Kim Y.S., Marth G., Neale B.M., Quinlan A., Rubenstein J., Sestan N., State M., Willsey A. J., Talkowski M., Devlin B., Roeder K., Sanders S.

Research Highlight

An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder. Werling D., Brand H., An J.Y., Stone M.R., Zhu L., Glessner J.T., Collins R.L., Dong S., Layer R.M., Markenscoff-Papadimitriou E., Farrell A., Schwartz G.B., Wang H.Z., Currall B.B., Zhao X., Dea J., Duhn C., Erdman C.A., Gilson M.C., Yadav R., Handsaker R.E., Kashin S., Klei L., Mandell J.D., Nowakowski T., Liu Y., Pochareddy S., Smith L., Walker M.F., Waterman M.J., He X., Kriegstein A., Rubenstein J., Sestan N., McCarroll S., Neale B.M., Coon H., Willsey A. J., Buxbaum J., Daly M., State M., Quinlan A., Marth G., Roeder K., Devlin B., Talkowski M., Sanders S.