Using Computational Genomics to Investigate Human Disease

Our Software Our Team

Research

The Marth Laboratory at the University of Utah Medical School is developing computational tools for biomedical data analysis in rare-disease genomics, precision oncology, and somatic mosaicism discovery. Our team is part of the Utah Center for Genetic Discovery, a community of doctoral and postdoctoral trainees, data engineers, statisticians, and faculty, all engaged in computational genomics research.

Clinical Genomics
Computational tools for rare-disease diagnostics.

As part of the NIH-funded Undiagnosed Diseases Network (UDN) Data Management and Coordination Center, the Marth Laboratory is building a comprehensive rare-disease patient data management platform and a large set of diagnostic tools for improving diagnostic rates in the UDN patient cohort. We are developing machine learning approaches for phenotype-driven patient-matching that leverage the UDN patients and additional large disease cohorts to identify groups of patients with similar phenotypes to identify shared causative genes within the group.

Precision Oncology
Machine learning algorithms for anticancer therapy selection

We are building novel deep-learning algorithms for personalizing treatment for each cancer patient based on the omic and pharmacologic characteristics of the patient’s tumor. In collaboration with cancer biologists, pharmacologists, and oncologists at the University of Utah and Huntsman Cancer Institute, we are implementing and testing these approaches in the clinic, currently for the treatment of advanced/metastatic breast cancers and primary/recurrent brain cancers. We are funded by the National Cancer Institute to utilize our learning approaches for identifying efficacious combination therapies for the treatment of breast cancer.

Somatic Mosaicism
Computational algorithms for somatic mosaicism discovery

The Marth Laboratory is a funded participant of the Somatic Mosaicism across Human Tissues (SMaHT) Network, an NIH initiative to transform our understanding of how somatic mosaicism in organs, tissues, and cells influences human biology and disease (more about SMaHT). Our main contribution is the development of reference-free computational algorithms for detecting somatically acquired (rather than inherited) mutations from voluminous, high-throughput DNA sequencing data generated by the SMaHT Consortium for the construction of a comprehensive Healthy Human Somatic Mosaicism Atlas across multiple tissues in hundreds of donors.

Visually-driven Genomics
Interactive tools for biomedical data analysis

We are developing highly visual, intuitive tools for real-time genome data browsing, disease variant prioritization, and metagenomics. Our approach prioritizes intuitive and interactive visual presentations of complex genomic data, making our software broadly accessible, regardless of computational expertise.

Software

iobio

Realtime genomic data visualization and analysis web tools

RUFUS

K-mer based de novo variant calling

  • direct comparison of k-mers in sequencing reads
  • has no reference alignment bias
  • is powered to call all variant types and sizes

freebayes

Bayesian haplotype-based variant calling

superseeker

Computational reconstruction of tumor clones

bayescmg

An applied Bayesian framework for the ACMG/AMP criteria

  • automatically applies ACMG criteria to vcf records
  • calculates a simple pathogencity probability
  • filters and prioritizes variants

ped_draw

Pedigree drawing with ease

  • quick and easy pedigree visualization
  • simple one-liner syntax
  • no dependencies

bamtools

C++ API & command-line toolkit for working with BAM data

Tangram

Fast structural variation detection toolbox

Publications

Some of our recent and featured publications are shown below, but you can find all of our publications on PubMed and Google Scholar

Apply!

We are always looking for talented and motivated people to join our team!

We are currently looking for post-docs with an emphasis in biostatistics and mathematics, as well as graduate students through the Utah Bioscience PhD and MD/PhD programs.

Email us or check our current job postings!

Members

Gabor Marth

Principle Investigator
Professor of Human Genetics

Alistair Ward

Director of Research and Science
CEO, Co-Founder Frameshift Genomics

Xiaomeng Huang

Assoc. Dir. of Research and Science
Precision Oncology

Isabelle Cooperstein

PhD Student
Genotype:Phenotype Correlations

Casey Sederman

MD/PHD Student
ML / Precision Oncology

Stephanie Gardiner

PhD Student
Somatic Mosaicism

Patrick Ozark

MD/PhD Student
ML / Precision Oncology

Taeho Kim

PhD Student
ML / Precision Oncology

Tony DiSera

Senior Software Developer
Clinical Genomics / iobio

Stephanie Georges

Principal Software Engineer
Variant Calling Algorithms / iobio

Anders Pitman

Software and Backend Developer
iobio

Yang Qi

Software Developer
iobio

Emerson Lebleu

Software Developer
iobio

Lab Alumni

Gage Black

Bioinformatics Scientist
Teiko.bio

Yi Qiao

Assistant Professor
U of Utah, Biomedical Informatics

Niki Williams

Sr Manager, Software Test Engineering
bioMérieux

Chase Miller

CTO | Co-Founder
Frameshift Genomics

Matt Velinder

Head of Bioinformatics
Frameshift Genomics

Andrew Farrell

Senior Research Scientist
Oak Ridge National Laboratory

Szabolcs Tarapcsak

Senior Data Scientist
Servier Pharmaceuticals

John Chamberlin

Postdoctoral Researcher
UPF/CRG

Corin Thummel

Business Data Analyst
FLSmidth & Co.

Matthew Bailey

Assistant Professor
Brigham Young University

Preetida Bhetariya

Bioinformatics Analyst / RA
Harvard School of Public Health

Erik Garrison

Postdoctoral Research Fellow
University of California, Santa Cruz

Contact

Our lab is part of the Utah Center for Genetic Discovery (UCGD) and the Department of Human Genetics at the University of Utah

Address

15 N 2030 E, Salt Lake City, UT