Author

Barbara Mostacci

Istituto delle Scienze Neurologiche di BolognaORCID 0000-0002-6994-0821Unclaimed 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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Approach:benchmark study· 1 Assay:bulk RNA-seq· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Alba Segarra‐CasasiD· 1 shared 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

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

Alba Segarra‐CasasORCID

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1 paper

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

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