Author

Brett N. Bowman

Illumina (United States)ORCID 0000-0001-8553-1529Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2 Approach:experimental assay· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Alba Sanchis‐JuaniD· 1 shared Andrew M. GrossiD· 1 shared Arianna TucciiD· 1 shared Bryan R. LajoieiD· 1 shared Courtney E. FrenchiD· 1 shared David Bentley· 1 shared Dennis W. DicksoniD· 1 shared Dorothea Emig-Agius· 1 shared

Activity by Year

2018-2019 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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1 shared paperBioinformatics

Alba Sanchis‐JuanORCID

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2 papers

Recent·Most cited

ExpansionHunter: A sequence-graph based tool to analyze variation in short tandem repeat regions

Egor Dolzhenko, Viraj Deshpande, Felix J. Schlesinger, Peter Krusche, Roman Petrovski, Sai Chen, Dorothea Emig-Agius, Andrew M. Gross, Giuseppe Narzisi, Brett N. Bowman, Konrad Scheffler, Joke J.F.A. van Vugt, Courtney E. French, Alba Sanchis‐Juan, Kristina Ibáñez, , Michael A. Eberle

ExpansionHunter is a tool for accurately genotyping short tandem repeats, particularly in complex regions with adjacent variants or imperfect repeats.

Bioinformatics · May 23, 2019Peer-reviewedBioinformatics

Long-read sequencing across the C9orf72 ‘GGGGCC’ repeat expansion: implications for clinical use and genetic discovery efforts in human disease

Mark Ebbert, Stefan L. Farrugia, Jonathon P. Sens, Karen R. Jansen‐West, Tania F. Gendron, Mercedes Prudencio, Ian J. McLaughlin, Brett N. Bowman, Matthew G. Seetin, Mariely DeJesus‐Hernandez, Jazmyne L. Jackson, Patricia H. Brown, Dennis W. Dickson, Marka van Blitterswijk, Rosa Rademakers, , John Denis Fryer

This study demonstrates that long-read sequencing can characterize the C9orf72 G4C2 repeat expansion in disease carriers, showing potential for clinical and genetic discovery applications.

Molecular Neurodegeneration · Aug 20, 2018Peer-reviewedGenetics