University of Utah · GeneticsMutation Insight Lab
Gabor T Marth · Salt Lake City, Utah
Research Focus
Dr. Gabor T Marth's lab focuses on improving how we detect somatic mutations, which are changes in our DNA that can lead to diseases like cancer. One key project is developing a software called RUFUS to enhance the sensitivity and accuracy of detecting these mutations across various types and frequencies. Another project, Calypso, aims to create a user-friendly web tool for clinical teams to collaborate on genomic diagnostics over time, particularly for complex cases like those in neonatal care and undiagnosed disease clinics.
somatic mosaicismmutation detectioncomputational algorithmsgenomic diagnosticsmachine learning
Research Aims
5AIM 01Develop RUFUS software for accurate somatic mutation detection.
AIM 02Adapt our computational tools for better sensitivity in genomic analysis.
AIM 03Create Calypso to support team-based diagnostic care.
AIM 04Facilitate long-term monitoring of genomic data in clinical settings.
AIM 05Test and validate our tools within clinical networks and research consortia.
Skills the Lab Values
PCRDNA sequencingbioinformaticssoftware developmentdata visualization
Output against the department
Publications233top 37% of dept.95th of 259
this lab
most publishedleast published
Citations163ktop 1% of dept.3rd of 259
this lab
most citedleast cited
Career totals from OpenAlex, compared against labs that share a department. A department spans everything from one paper to tens of thousands, so bar heights are on a log scale — otherwise the largest lab would flatten every other bar to a line.