For a complete list of publications visit my personal publications page.

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