Author

Cecelia Esteves

Harvard UniversityORCID 0000-0003-2557-9330Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Kaitlyn Szot· 1 shared Laura Kathleen ConliniD· 1 shared Maninder KauriD· 1 shared Ramakrishnan RajagopalaniD· 1 shared Shilpa N. KobreniD· 1 shared Tejas R. JammihaliD· 1 shared Undiagnosed Diseases Network· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

7 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Kaitlyn Szot

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintOct 5, 2026

Overcoming a diagnostic blindspot: Identifying balanced translocations in Mendelian rare disease cohorts

Tejas R. Jammihal, Kaitlyn Szot, Maninder Kaur…·Ramakrishnan Rajagopalan

This paper develops a specific pipeline to detect balanced reciprocal translocations in genomic data and applies it across multiple cohorts to assess their prevalence and diagnostic impact.

DOI 10.64898/2026.09.30.26363717

humanwhole-genome sequencing

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