Author

Reha M. Toydemir

Quest Diagnostics (United States)ORCID 0000-0002-0797-1999Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Peter H Bui· 2 shared Aleksandar RajkoviciD· 1 shared Barbara R. DuPont· 1 shared Benjamin HiltoniD· 1 shared Brynn LevyiD· 1 shared Colyn B. Cargile· 1 shared David W Marsh· 1 shared Guang Li· 1 shared

Activity by Year

2023-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Peter H Bui

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2 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