Author

Elizabeth Carbonell

Broad Institute

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

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Anne O’Donnell‐LuriaiD· 2 shared Benedict PateniD· 2 shared Brandy McNulty· 2 shared Brian E. Mangilog· 2 shared Christina Anne Austin-TseiD· 2 shared Gabrielle LemireiD· 2 shared Grace E. VanNoyiD· 2 shared Ivo Violich· 2 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Anne O’Donnell‐LuriaORCID

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2 papers

Recent·Most cited

Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing

Alba Sanchis‐Juan, Yulia Mostovoy, Sarah L. Stenton, Vijay S Ganesh, Ben Weisburd, Alex Yenkin, Nehir Edibe Kurtas, Xuefang Zhao, Eren Shin, Philip M. Boone, Hang Su, Arthur S. Lee, Rachita Yadav, Kirsten Allan, Emanuela Argilli, , Michael E. Talkowski

This study evaluates the diagnostic yield of short-read and long-read sequencing in rare diseases, finding limited added value from long-read sequencing despite increased variant discovery.

medRxiv · Jun 24, 2026 · PreprintGenetic & Genomic Medicine

Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection

Shloka Negi, Sarah L. Stenton, Seth Berger, Paolo Canigiula, Brandy McNulty, Ivo Violich, Joshua M.V. Gardner, Todd L. Hillaker, Sara M. O’Rourke, Melanie O’Leary, Elizabeth Carbonell, Christina Anne Austin-Tse, Gabrielle Lemire, Jillian Serrano, Brian E. Mangilog, , Benedict Paten

This study evaluates the diagnostic yield of long-read nanopore sequencing in rare disease detection, finding it covers more genes and detects additional variants compared to short-read sequencing.

The American Journal of Human Genetics · Jan 24, 2025Peer-reviewedGenetic & Genomic Medicine