Author

Rhonda C. Brandon

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 Genomics· 1

Signature Assays, Organisms & Methods

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Approach:statistical model· 3 Organism:human· 2 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2 Assay:whole-genome sequencing· 2 Research Focus:benchmarking· 1 Approach:experimental assay· 1 Research Focus:fine-mapping· 1

Frequent Co-Authors

Isabelle ThiffaultiD· 2 shared Paul S. KruszkaiD· 2 shared Swaroop AradhyaiD· 2 shared Alexander HoischeniD· 1 shared Alexandre ReymondiD· 1 shared Amanda Thomas‐WilsoniD· 1 shared Ana S.A. CoheniD· 1 shared Andrea Cohen· 1 shared

Activity by Year

2022-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 23 mutual co-author links

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2 shared papersGenomics

Isabelle ThiffaultORCID

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3 papers

Recent·Most cited

Genome-wide profiling of highly similar paralogous genes using HiFi sequencing

Xiao Chen, Daniel Baker, Egor Dolzhenko, Joseph M. Devaney, Jessica Noya, April S. Berlyoung, Rhonda C. Brandon, Kathleen S. Hruska, Lucas Lochovsky, Paul S. Kruszka, Scott Newman, Emily Farrow, Isabelle Thiffault, Tomi Pastinen, Dalia Kasperavičiūtė, , Michael A. Eberle

The paper develops Paraphase, a HiFi-based method to resolve highly similar paralogous genes, revealing genetic diversity and de novo events in segmental duplications.

Nature Communications · Mar 8, 2025Peer-reviewedGenomics

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

Heidi L. Rehm, Joseph T. Alaimo, Swaroop Aradhya, Pınar Bayrak‐Toydemir, Hunter D. Best, Rhonda C. Brandon, Jillian G. Buchan, Elizabeth Chao, Elaine Y. Chen, Jacob Clifford, Ana S.A. Cohen, Laura Kathleen Conlin, Soma Das, Kyle Davis, Daniela del Gaudio, , Stephen Francis Kingsmore

The paper analyzes VUS rates in genetic testing and finds lower rates in exome/genome sequencing compared to multi-gene panels, suggesting improvements in variant reporting practices.

Genetics in Medicine · Jul 30, 2023Peer-reviewedGenetic & Genomic Medicine

A cross-disorder dosage sensitivity map of the human genome

Ryan L. Collins, Joseph Glessner, Eleonora Porcu, Maarja Lepamets, Rhonda C. Brandon, Christopher Lauricella, Lide Han, Theodore J. Morley, Lisa‐Marie Niestroj, Jacob C. Ulirsch, Selin Everett, Daniel P. Howrigan, Philip M. Boone, Jack M. Fu, Konrad J. Karczewski, , Michael E. Talkowski

This study identifies 114 genome-wide significant rare CNV-disease associations across 30 neurological disorders, revealing 38 novel triplosensitive genes and developing a model to predict dosage sensitivity.

Cell · Aug 1, 2022Peer-reviewedGenetic & Genomic Medicine