🔬 Lab Opening January 2026
Coming to the Department of Human Genetics at the University of Utah on January 1st, 2026.
Postdoc, staff, and graduate student positions available!

Contact: mrvollger[at]gmail.com / mrvollger[at]genetics.utah.edu

Research

My laboratory focuses on developing computational tools and approaches to reveal novel biological insights within the most challenging and rapidly evolving regions of the human genome—segmental duplications (SDs). Using cutting-edge long-read sequencing technologies, we study how gene regulatory elements within these complex genomic regions impact human evolution and disease. Our work bridges genome assembly, chromatin biology, and bioinformatics to characterize the regulatory networks of duplicated genes and understand their contributions to human-specific traits, particularly in the context of neurogenesis. Through collaborations with major genomics consortia, including the Telomere-to-Telomere Consortium and the Human Pangenome Reference Consortium, we are creating the first comprehensive atlas of gene regulation in the fastest-evolving euchromatic regions of the human genome.

Selected Publications

Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition
Mitchell R. Vollger, Jonas Korlach, Kiara C. Eldred, Elliott Swanson, Jason G. Underwood, Stephanie C. Bohaczuk, et al. Nature Genetics. 2025.

Cited in Crossref 11 times

DNA-m6A calling and integrated long-read epigenetic and genetic analysis with fibertools
Anupama Jha, Stephanie C. Bohaczuk, Yizi Mao, Jane Ranchalis, Benjamin J. Mallory, Alan T. Min, ... Mitchell R. Vollger. Genome Research. 2024.

Cited in Crossref 18 times

A haplotype-resolved view of human gene regulation
Mitchell R. Vollger, Elliott G. Swanson, Shane J. Neph, Jane Ranchalis, Katherine M. Munson, Ching-Huang Ho, et al. bioRxiv. 2024.

Cited in Crossref 8 times

Increased mutation and gene conversion within human segmental duplications
Mitchell R. Vollger, Philip C. Dishuck, William T. Harvey, William S. DeWitt, Xavi Guitart, Michael E. Goldberg, et al. Nature. 2023.

Cited in Crossref 68 times

Segmental duplications and their variation in a complete human genome
Mitchell R. Vollger, Xavi Guitart, Philip C. Dishuck, Ludovica Mercuri, William T. Harvey, Ariel Gershman, et al. Science. 2022.

Cited in Crossref 240 times

StainedGlass: Interactive visualization of massive tandem repeat structures with identity heatmaps
Mitchell R. Vollger, Peter Kerpedjiev, Adam M Phillippy, Evan E Eichler. Bioinformatics. 2022.

Cited in Crossref 105 times

Improved assembly and variant detection of a haploid human genome using single‐molecule, high‐fidelity long reads
Mitchell R. Vollger, Glennis A. Logsdon, Peter A. Audano, Arvis Sulovari, David Porubsky, Paul Peluso, et al. Annals of Human Genetics. 2019.

Cited in Crossref 106 times

Long-read sequence and assembly of segmental duplications
Mitchell R. Vollger, Philip C. Dishuck, Melanie Sorensen, AnneMarie E. Welch, Vy Dang, Max L. Dougherty, et al. Nature Methods. 2018.

Cited in Crossref 171 times

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