Author

Eli J. Kaufman

University of WashingtonORCID 0000-0001-8553-210XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Assay:long-read sequencing· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:non-human primate· 1 Research Focus:phylogenetics / evolution· 1 Approach:statistical model· 1

Frequent Co-Authors

Evan E. EichleriD· 2 shared Katherine M. MunsoniD· 2 shared Paul N. ValdmanisiD· 2 shared Aaron R. QuinlaniD· 1 shared Akshay Kumar AvvaruiD· 1 shared Arvis SulovariiD· 1 shared Christopher E. MasoniD· 1 shared David PorubskỳiD· 1 shared

Activity by Year

2024-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 39 mutual co-author links

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2 shared papersGenomics

Evan E. EichlerORCID

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2 papers

Recent·Most cited

A family portrait of the genomic factors shaping tandem repeat mutagenesis

Thomas A. Sasani, Michael E. Goldberg, Akshay Kumar Avvaru, Thomas J. Nicholas, Deborah Wood Neklason, Egor Dolzhenko, Tom Mokveld, Katherine M. Munson, Kendra Hoekzema, Marcelo Ayllon, Eli J. Kaufman, David Porubskỳ, Zev N. Kronenberg, Guilherme De Sena Brandine, William J. Rowell, , Harriet Dashnow

This study identifies genomic factors influencing tandem repeat mutagenesis using long-read sequencing in a large family, finding that de novo mutations are more common at longer, uninterrupted, and heterozygous loci.

bioRxiv · May 12, 2026 · PreprintGenomics

Structural and genetic diversity in the secreted mucins, MUC5AC and MUC5B

Elizabeth G. Plender, Timofey Prodanov, PingHsun Hsieh, Evangelos Nizamis, William T. Harvey, Arvis Sulovari, Katherine M. Munson, Eli J. Kaufman, Wanda K. O’Neal, Paul N. Valdmanis, Tobias Marschall, Jesse D. Bloom, Evan E. Eichler

This study characterizes structural and genetic diversity in MUC5AC and MUC5B using long-read sequencing, revealing haplotype variation and evolutionary patterns across human and nonhuman primate populations.

The American Journal of Human Genetics · Jul 10, 2024Peer-reviewedGenomics