Mitchell Vollger
Assistant Professor of Human Genetics
Genomics, bioinformatics, segmental duplications, gene regulation, evolution
Molecular Biology Program
Education
B.S.E. Princeton University
Ph.D. University of Washington
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. https://www.vollgerlab.com/
References
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.
- 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.
- 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.
- 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.
- 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.
- StainedGlass: Interactive visualization of massive tandem repeat structures with identity heatmaps. Mitchell R. Vollger, Peter Kerpedjiev, Adam M Phillippy, Evan E Eichler. Bioinformatics. 2022.
- 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.
- 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.