Author

Joey C. Estabrook

BioNano Genomics (United States)

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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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Alex R. HastieiD· 2 shared Alka ChaubeyiD· 2 shared Andy Wing Chun PangiD· 2 shared Jen Hauenstein· 2 shared Alex ChitsazaniD· 1 shared Arthi Sridhar· 1 shared Benjamin Clifford· 1 shared Gordana RacaiD· 1 shared

Activity by Year

2022-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 40 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alex R. HastieORCID

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2 papers

Recent·Most cited

OMKar automates genome karyotyping using optical maps to identify constitutional abnormalities

Siavash R. Dehkordi, Zhaoyang Jia, Joey C. Estabrook, Jen Hauenstein, Neil R. Miller, Naz Güleray Lafcı, Jürgen Neesen, Alex R. Hastie, Alka Chaubey, Andy Wing Chun Pang, Paul Dremsek, Vineet Bafna

OMKar generates virtual karyotypes from optical genome mapping data to identify constitutional abnormalities with high precision and recall.

Genome Research · Dec 1, 2025Peer-reviewedGenetic & Genomic Medicine

Clinical Validation of Optical Genome Mapping for the Detection of Structural Variations in Hematological Malignancies

Andy Wing Chun Pang, Karena A. Kosco, Nikhil Sahajpal, Arthi Sridhar, Jen Hauenstein, Benjamin Clifford, Joey C. Estabrook, Alex Chitsazan, Trilochan Sahoo, M. Anwar Iqbal, Ravindra B Kolhe, Gordana Raca, Alex R. Hastie, Alka Chaubey

This study validates optical genome mapping (OGM) as a clinical test for detecting structural variations in hematological malignancies, showing high accuracy and sensitivity compared to standard-of-care methods.

medRxiv · Dec 27, 2022 · PreprintGenetic & Genomic Medicine