Author

David Porubsky

University of Washington

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Bioinformatics· 1 Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Approach:statistical model· 3 Organism:human· 2 Assay:whole-genome sequencing· 2 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Assay:DNA methylation· 1 Research Focus:gene regulatory network inference· 1 Research Focus:GWAS / association mapping· 1

Frequent Co-Authors

Evan E. EichleriD· 3 shared Jiadong LiniD· 2 shared Tobias MarschalliD· 2 shared Adam Novak· 1 shared Alex R. HastieiD· 1 shared Alexandra P. LewisiD· 1 shared Ali GhaffaariiD· 1 shared André CorveloiD· 1 shared

Activity by Year

2016-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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3 shared papersGenetics

Evan E. EichlerORCID

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3 papers

Recent·Most cited

The genetic architecture of human DNA methylome variation

Tianjie Liu, Juan F. Macias-Velasco, Xiaoyu Zhuo, Jiadong Lin, David Porubsky, Wenjin Zhang, Daofeng Li, Chad Tomlinson, Edward A. Belter, Zheng Dong, Shihua Dong, Human Pangenome Reference Consortium, Evan Eichler, Ting Wang

This study develops pangenome-based frameworks to analyze DNA methylome variation across diverse human genomes, identifying genetic factors influencing methylation patterns and their associations with complex traits.

bioRxiv · Nov 2, 2026 · PreprintGenetics

Impact and characterization of serial structural variations across humans and great apes

Wolfram Höps, Tobias Rausch, Michael Jendrusch, Hufsah Ashraf, Peter A. Audano, Ola Austine, Anna O. Basile, Christine R. Beck, Marc Jan Bonder, Marta Byrska-Bishop, Mark Chaisson, Zechen Chong, André Corvelo, Scott E. Devine, Peter Ebert, , Fritz J. Sedlazeck

The paper introduces NAHRwhals, a method to detect serial structural variations in long-read genomes, identifies 37 sSV loci in humans, and shows their relevance to disease.

Nature Communications · Sep 12, 2024Peer-reviewedBioinformatics

Computational Pan-Genomics: Status, Promises and Challenges

Tobias Marschall, Manja Marz, Thomas Abeel, Louis Dijkstra, Bas E Dutilh, Ali Ghaffaari, Paul Kersey, Wigard Kloosterman, Veli Makinen, Adam Novak, Benedict Paten, David Porubsky, Eric RIVALS, Can Alkan, Jasmijn Baaijens, , Pisan

This paper reviews computational pan-genomics, discussing its status, potential, and challenges across multiple biological disciplines.

Briefings in Bioinformatics · Oct 21, 2016Peer-reviewedGenomics