Author

Mezthly Pena

Baylor College of Medicine

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Brendan LeeiD· 1 shared Christine Eng· 1 shared Gladys E. Zapata· 1 shared Jefferson C. Sinson· 1 shared Jill Anne RosenfeldiD· 1 shared Kim C. WorleyiD· 1 shared Kristina Macakova· 1 shared Lindsay Catherine BurrageiD· 1 shared

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2025-2025 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Brendan LeeORCID

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1 paper

Recent·Most cited

The Utility of Ultra-Deep RNA sequencing in Mendelian Disorder Diagnostics

Sen Zhao, Jefferson C. Sinson, Shenglan Li, Jill Anne Rosenfeld, Gladys E. Zapata, Kristina Macakova, Mezthly Pena, Rebecca L. Maywald, Kim C. Worley, Lindsay Catherine Burrage, Monika Weisz‐Hubshman, Shamika Ketkar, William James Craigen, Lisa Emrick, Undiagnosed Diseases Network, , Pengfei Liu

This study evaluates ultra-high-depth RNA-seq for Mendelian disorder diagnostics, showing improved detection of low-abundance transcripts and splicing variants, and introduces a resource to guide sequencing depth selection.

The American Journal of Human Genetics · Oct 10, 2025Peer-reviewedGenetic & Genomic Medicine