Author

Adrian M. Dubuc

Brigham and Women's HospitalORCID 0000-0002-3447-6715Unclaimed 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:benchmarking· 2 Approach:experimental assay· 2 Organism:human· 2 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2 Research Focus:database / resource· 1 Assay:DNA methylation· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Barbara R. DuPont· 2 shared Brynn LevyiD· 2 shared M. Anwar IqbaliD· 2 shared Nikhil SahajpaliD· 2 shared Ravindra B KolheiD· 2 shared Teresa A. Smolarek· 2 shared Aaron A. StenceiD· 1 shared Aleksandar RajkoviciD· 1 shared

Activity by Year

2022-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 42 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Barbara R. DuPont

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2 papers

Recent·Most cited

Optical Genome Mapping improves detection and streamlines analysis of structural variants in myeloid neoplasms.

Gordana Raca, Trilochan Sahoo, M. Anwar Iqbal, Teresa A. Smolarek, Brynn Levy, Barbara R. DuPont, Scott T. Ryall, Adrian M. Dubuc, Nikhil Sahajpal, Jie Liu, Jun Liao, Zixuan Wang, Aaron A. Stence, Natalya V. Guseva, James Riley Broach, , Rashmi Kanagal‐Shamanna

This study evaluates Optical Genome Mapping (OGM) for detecting structural variants in myeloid neoplasms, showing high concordance and identifying additional clinically relevant variants compared to standard of care methods.

medRxiv · Jan 2, 2024 · 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