Author

Alba Segarra‐Casas

Instituto de Salud Carlos IIIORCID 0000-0001-5185-5031Unclaimed 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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Approach:statistical model· 2 Approach:benchmark study· 1 Assay:bulk RNA-seq· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Alexander HoischeniD· 1 shared Ana TöpfiD· 1 shared Andreas RoosiD· 1 shared Anna Esteve‐CodinaiD· 1 shared Anne‐Sophie Denommé‐PichoniD· 1 shared Antonio VitobelloiD· 1 shared Aurora PujoliD· 1 shared Barbara MostacciiD· 1 shared

Activity by Year

2021-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alexander HoischenORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintFeb 14, 2026

Standardized transcriptome analysis improves rare disease diagnosis in the pan-European Solve-RD consortium

Vicente A. Yépez, Rebeka Luknárová, Danique Beijer…·Julien Gagneur

The paper presents a standardized RNA-seq analysis framework for rare disease diagnosis, identifying molecular diagnoses in 7.7% of previously undiagnosed cases.

1 citation

humanbulk RNA-seq

𝕏 PostBluesky

GenomicsGenome ResearchPeer-reviewedAug 1, 2021

Intronic enhancers regulate the expression of genes involved in tissue-specific functions and homeostasis

Beatrice Borsari, Pablo Villegas-Mirón, Sílvia Pérez-Lluch…·Sandra Acosta

The paper shows that tissue-specific enhancers are mostly intronic and regulate genes involved in tissue-specific functions, while housekeeping genes are controlled by intergenic enhancers.

90 citations

statistical modelgene regulatory network inference

𝕏 PostBluesky