Author

Jessica Noya

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· 1 Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 3 Organism:human· 3 Research Focus:variant calling· 3 Assay:whole-genome sequencing· 3 Approach:statistical model· 2 Approach:benchmark study· 1 Research Focus:database / resource· 1 Approach:experimental assay· 1

Frequent Co-Authors

April S. Berlyoung· 3 shared Egor DolzhenkoiD· 2 shared Joseph M. DevaneyiD· 2 shared Lucas LochovskyiD· 2 shared Michael A. EberleiD· 2 shared Xiao CheniD· 2 shared Alexander HoischeniD· 1 shared ALEXANDER V. ROBERTSON· 1 shared

Activity by Year

2025-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 34 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

April S. Berlyoung

Mutual co-authors in cluster

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3 papers

Recent·Most cited

Benchmarking long-read variant sensitivity across ONT and PacBio platforms using known clinically reported variants in a cohort of critically ill newborns

Colby T. Marvin, Joseph M. Devaney, Kati J. Buckingham, Jessica Noya, Kathryn M. Shively, Caitlin N. Jacques, Miranda Galey, Sophie H. R. Storz, Joy Goffena, April S. Berlyoung, Karynne E. Patterson, Tristan S. Shaffer, Christina Zakarian, Sean R. McGee, Smith Jp, , Jessica X. Chong

medRxiv · Jul 10, 2026 · PreprintGenetic & Genomic Medicine

Resolution of the D4Z4 repeat responsible for facioscapulohumeral muscular dystrophy with HiFi sequencing

Xiao Chen, Richard J.L.F. Lemmers, Zev N. Kronenberg, Joseph M. Devaney, Jessica Noya, April S. Berlyoung, Shamila Yusuff, Solomon Lynch, Keith Nykamp, Amanda S. Lindy, Egor Dolzhenko, Silvère M. van der Maarel, Michael A. Eberle

The paper introduces Kivvi, a tool to genotype D4Z4 repeats using HiFi sequencing, enabling accurate detection of FSHD-related alleles and revealing genetic diversity across populations.

bioRxiv · Apr 14, 2026 · PreprintGenetics

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