Author

Peter H Bui

Quest Diagnostics (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· 3

Signature Assays, Organisms & Methods

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Organism:human· 3 Research Focus:variant calling· 3 Assay:whole-genome sequencing· 3 Research Focus:benchmarking· 2 Approach:experimental assay· 2 Approach:statistical model· 2

Frequent Co-Authors

Aleksandar RajkoviciD· 2 shared Barbara R. DuPont· 2 shared Brynn LevyiD· 2 shared M. Anwar IqbaliD· 2 shared Monique Ho· 2 shared Mythily GanapathiiD· 2 shared Nikhil SahajpaliD· 2 shared Ravindra B KolheiD· 2 shared

Activity by Year

2022-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Aleksandar RajkovicORCID

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3 papers

Recent·Most cited

Whole-Genome Sequencing is a Viable Replacement for Chromosomal Microarray and Fragile X PCR Testing

Yueyao Gao, Sarah T. South, Colyn B. Cargile, Julie L Cox, Mark Fleharty, Benjamin Hilton, Katie L. Larkin, Guang Li, David W Marsh, Victoria Popic, Reha M. Toydemir, Sean E. Hofherr, Niall J. Lennon, Peter H Bui

This study shows that whole-genome sequencing can replace chromosomal microarray and Fragile X testing with higher accuracy and broader coverage for genetic disorders.

medRxiv · May 24, 2025 · PreprintGenetic & Genomic Medicine

Progress Update for the Multisite Optical Genome Mapping Evaluation and Validation Study: Prenatal Applications

Brynn Levy, Jie Liu, M. Anwar Iqbal, Barbara R. DuPont, Nikhil Sahajpal, Monique Ho, Jingwei Yu, Sam J. Brody, Heather Mason‐Suares, Mythily Ganapathi, Aleksandar Rajkovic, Teresa A. Smolarek, Reha M. Toydemir, Peter H Bui, Ravindra B Kolhe, Roger E. Stevenson

This paper updates the phase 2 results of a multisite study evaluating optical genome mapping (OGM) as a prenatal diagnostic tool, showing high accuracy and clinical utility.

medRxiv · Dec 22, 2023 · PreprintGenetic & Genomic Medicine

Multisite evaluation and validation of Optical Genome Mapping for prenatal genetic testing

Roger E. Stevenson, J. Liu, M. Anwar Iqbal, Barbara R. DuPont, Nikhil Sahajpal, Monique Ho, J.W. Yu, Sam J. Brody, Mythily Ganapathi, Aleksandar Rajkovic, Teresa A. Smolarek, Fatih Z Boyar, Peter H Bui, Adrian M. Dubuc, Ravindra B Kolhe, Brynn Levy

The paper evaluates optical genome mapping as a prenatal diagnostic tool, showing 100% concordance with standard methods across multiple sites and operators.

medRxiv · Dec 19, 2022 · PreprintGenetic & Genomic Medicine