Author

Ana Osório

Instituto de Salud Carlos IIIORCID 0000-0001-8124-3984Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Approach:statistical model· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Almudena FernándeziD· 1 shared Aroa López-Alcojor· 1 shared Berta AlmogueraiD· 1 shared Carmen AyusoiD· 1 shared Cristina RodillaiD· 1 shared Graciela Uría-RegojoiD· 1 shared Lidia Fernández‐CaballeroiD· 1 shared Lucía López-LópeziD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Almudena FernándezORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJul 14, 2026

Dissecting the functional landscape of rare diseases through genomic variation in a heterogeneous cohort of 11,000 patients

Graciela Uría-Regojo, Lidia Fernández‐Caballero, Aroa López-Alcojor…·Pablo Mínguez

This study uses genomic data from 11,084 patients to build a variant database and identify disease-associated signals, leading to molecular diagnoses in 32 unsolved rare disease cases.

DOI 10.64898/2026.06.10.26355349

humanwhole-exome sequencing

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