First author
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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

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 7 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 67 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 236 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 104 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 104 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

Corresponding author
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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 15 times

2025
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Genetic diversity and regulatory features of human-specific NOTCH2NL duplications
Taylor D. Real, Prajna Hebbar, DongAhn Yoo, Francesca Antonacci, Ivana Pačar, Mark Diekhans, ... Mitchell R. Vollger..., et al. bioRxiv. 2025.

Cited in Crossref 0 times

Integrating Single-Molecule Sequencing and Deep Learning to Predict Haplotype-Specific 3D Chromatin Organization in a Mendelian Condition
Danilo Dubocanin, Anna Kalygina, J. Matthew Franklin, Cy Chittenden, Mitchell R. Vollger, Shane Neph, et al. bioRxiv. 2025.

Cited in Crossref 0 times

2024
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Deaminase-assisted single-molecule and single-cell chromatin fiber sequencing
Elliott G. Swanson, Yizi Mao, Benjamin J. Mallory, Mitchell R. Vollger, Jane Ranchalis, Stephanie C. Bohaczuk, et al. bioRxiv. 2024.

Cited in Crossref 2 times

The regulatory potential of transposable elements in maize
Kerry L. Bubb, Morgan O. Hamm, Joseph K. Min, Bryan Ramirez-Corona, Nicholas A. Mueth, Jane Ranchalis, Mitchell R. Vollger, et al. bioRxiv. 2024.

Cited in Crossref 2 times

Resolving the chromatin impact of mosaic variants with targeted Fiber-seq
Stephanie C. Bohaczuk, Zachary J. Amador, Chang Li, Benjamin J. Mallory, Elliott G Swanson, Jane Ranchalis, Mitchell R. Vollger, et al. bioRxiv. 2024.

Cited in Crossref 1 times

2023
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A draft human pangenome reference
Wen-Wei Liao, Mobin Asri, Jana Ebler, Daniel Doerr, Marina Haukness, Glenn Hickey, ... Mitchell R. Vollger..., et al. Nature. 2023.

Cited in Crossref 608 times

mutyper: assigning and summarizing mutation types for analyzing germline mutation spectra
William S. DeWitt, Luke Zhu, Mitchell R. Vollger, Michael E. Goldberg, Andrea Talenti, Annabel C. Beichman, et al. Journal of Open Source Software. 2023.

Cited in Crossref 4 times

Gaps and complex structurally variant loci in phased genome assemblies
David Porubsky, Mitchell R. Vollger, William T. Harvey, Allison N. Rozanski, Peter Ebert, Glenn Hickey, et al. Genome Research. 2023.

Cited in Crossref 27 times

2022
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A refined characterization of large-scale genomic differences in the first complete human genome
Xiangyu Yang, Xuankai Wang, Yawen Zou, Shilong Zhang, Manying Xia, Mitchell R. Vollger, et al. bioRxiv. 2022.

Cited in Crossref 2 times

A complete reference genome improves analysis of human genetic variation
Sergey Aganezov, Stephanie M. Yan, Daniela C. Soto, Melanie Kirsche, Samantha Zarate, Pavel Avdeyev, ... Mitchell R. Vollger..., et al. Science. 2022.

Cited in Crossref 262 times

Complete genomic and epigenetic maps of human centromeres
Nicolas Altemose, Glennis A. Logsdon, Andrey V. Bzikadze, Pragya Sidhwani, Sasha A. Langley, Gina V. Caldas, ... Mitchell R. Vollger..., et al. Science. 2022.

Cited in Crossref 357 times

Epigenetic patterns in a complete human genome
Ariel Gershman, Michael E. G. Sauria, Xavi Guitart, Mitchell R. Vollger, Paul W. Hook, Savannah J. Hoyt, et al. Science. 2022.

Cited in Crossref 200 times

From telomere to telomere: The transcriptional and epigenetic state of human repeat elements
Savannah J. Hoyt, Jessica M. Storer, Gabrielle A. Hartley, Patrick G. S. Grady, Ariel Gershman, Leonardo G. de Lima, ... Mitchell R. Vollger..., et al. Science. 2022.

Cited in Crossref 249 times

The complete sequence of a human genome
Sergey Nurk, Sergey Koren, Arang Rhie, Mikko Rautiainen, Andrey V. Bzikadze, Alla Mikheenko, Mitchell R. Vollger, et al. Science. 2022.

Cited in Crossref 2005 times

2021
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Evidence for opposing selective forces operating on human-specific duplicated TCAF genes in Neanderthals and humans
PingHsun Hsieh, Vy Dang, Mitchell R. Vollger, Yafei Mao, Tzu-Hsueh Huang, Philip C. Dishuck, et al. Nature Communications. 2021.

Cited in Crossref 21 times

The structure, function and evolution of a complete human chromosome 8
Glennis A. Logsdon, Mitchell R. Vollger, PingHsun Hsieh, Yafei Mao, Mikhail A. Liskovykh, Sergey Koren, et al. Nature. 2021.

Cited in Crossref 273 times

2020
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Fully phased human genome assembly without parental data using single-cell strand sequencing and long reads
David Porubsky, Peter Ebert, Peter A. Audano, Mitchell R. Vollger, William T. Harvey, Pierre Marijon, et al. Nature Biotechnology. 2020.

Cited in Crossref 150 times

Sequence diversity analyses of an improved rhesus macaque genome enhance its biomedical utility
Wesley C. Warren, R. Alan Harris, Marina Haukness, Ian T. Fiddes, Shwetha C. Murali, Jason Fernandes, ... Mitchell R. Vollger..., et al. Science. 2020.

Cited in Crossref 130 times

Long-read human genome sequencing and its applications
Glennis A. Logsdon, Mitchell R. Vollger, Evan E. Eichler. Nature Reviews Genetics. 2020.

Cited in Crossref 783 times

HiCanu: accurate assembly of segmental duplications, satellites, and allelic variants from high-fidelity long reads
Sergey Nurk, Brian P. Walenz, Arang Rhie, Mitchell R. Vollger, Glennis A. Logsdon, Robert Grothe, et al. Genome Research. 2020.

Cited in Crossref 571 times

Telomere-to-telomere assembly of a complete human X chromosome
Karen H. Miga, Sergey Koren, Arang Rhie, Mitchell R. Vollger, Ariel Gershman, Andrey Bzikadze, et al. Nature. 2020.

Cited in Crossref 584 times

Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes
Kishwar Shafin, Trevor Pesout, Ryan Lorig-Roach, Marina Haukness, Hugh E. Olsen, Colleen Bosworth, ... Mitchell R. Vollger..., et al. Nature Biotechnology. 2020.

Cited in Crossref 435 times

2019
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Human-specific tandem repeat expansion and differential gene expression during primate evolution
Arvis Sulovari, Ruiyang Li, Peter A. Audano, David Porubsky, Mitchell R. Vollger, Glennis A. Logsdon, et al. Proceedings of the National Academy of Sciences. 2019.

Cited in Crossref 102 times

Adaptive archaic introgression of copy number variants and the discovery of previously unknown human genes
PingHsun Hsieh, Mitchell R. Vollger, Vy Dang, David Porubsky, Carl Baker, Stuart Cantsilieris, et al. Science. 2019.

Cited in Crossref 68 times

Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus
Flavia A. M. Maggiolini, Stuart Cantsilieris, Pietro D'Addabbo, Michele Manganelli, Bradley P. Coe, Beth L. Dumont, ... Mitchell R. Vollger..., et al. PLOS Genetics. 2019.

Cited in Crossref 22 times

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This page was last updated on 2025-05-07.