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 (
bam.iobio.io
and
vcf.iobio.io);
and for powerful, interactive, gene-focused disease variant analysis and prioritization
(
gene.iobio.io). These tools form the underpinnings of intuitive, real-time interactive
workflows for disease gene discovery and clinical diagnostics.