Author

Benjamin Hilton

Greenwood Genetic CenterORCID 0000-0002-2126-9434Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Alex R. HastieiD· 1 shared Alka ChaubeyiD· 1 shared Ashis Kumar MondaliD· 1 shared Barbara R. DuPont· 1 shared Colyn B. Cargile· 1 shared David W Marsh· 1 shared Guang Li· 1 shared Julie L Cox· 1 shared

Activity by Year

2023-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alex R. HastieORCID

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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

Clinical Validation and Diagnostic Utility of Optical Genome Mapping in Prenatal Diagnostic Testing

Nikhil Sahajpal, Ashis Kumar Mondal, Timothy Fee, Benjamin Hilton, Lawrence Clarke Layman, Alex R. Hastie, Alka Chaubey, Barbara R. DuPont, Ravindra B Kolhe

This study validates optical genome mapping (OGM) as a high-resolution, cost-effective alternative to traditional prenatal diagnostic methods by demonstrating its ability to detect all classes of structural variants and copy number variations with 100% concordance.

Journal of Molecular Diagnostics · Feb 8, 2023Peer-reviewedGenetic & Genomic Medicine