Author

Daniela Böhme

Clínica AlemanaORCID 0009-0001-6040-6382Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Boris Rebolledo‐JaramilloiD· 2 shared Gabriela M. RepettoiD· 2 shared Fernanda EspinosaiD· 1 shared Gabriela Moreno YatesiD· 1 shared Gonzalo EncinaiD· 1 shared Luz MartiniD· 1 shared M. Cecilia PoliiD· 1 shared Maria Jesús ZavalaiD· 1 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 38 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Boris Rebolledo‐JaramilloORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintFeb 22, 2026

Features Influencing Diagnostic Yield of Exome Sequencing in the DECIPHERD Study in Chile

Gabriela Moreno Yates, Boris Rebolledo‐Jaramillo, Daniela Böhme…·Gabriela M. Repetto

This study evaluates factors influencing diagnostic yield of exome sequencing in Chilean patients with rare diseases, finding that NDD and MCA increase diagnostic yield while prior gene panel testing decreases it.

DOI 10.64898/2026.02.12.26345769

humanwhole-exome sequencing

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GenomicsGenesPeer-reviewedMay 27, 2025

Exploring the impact of mitonuclear discordance on disease in Latin American admixed populations

Mauricio Ruiz, Daniela Böhme, Gabriela M. Repetto, Boris Rebolledo‐Jaramillo

The paper examines mitonuclear discordance in Latin American admixed populations, finding lower MND in affected individuals, especially for OXPHOS and high-mt genes, suggesting links to disease.

1 citation

humanwhole-genome sequencing

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