Author

Orazio Catona

University Hospital Schleswig-HolsteinORCID 0009-0008-9408-7587Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Assay:ChIP-seq· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Assay:long-read sequencing· 1 Approach:machine learning (classical)· 1 Organism:mouse· 1 Organism:non-human primate· 1

Frequent Co-Authors

Bing ReniD· 1 shared Martin KircheriD· 1 shared Mattia PitasiiD· 1 shared Romina D’AurizioiD· 1 shared Silvia K. NicolisiD· 1 shared Yang Eric LiiD· 1 shared

Activity by Year

2022-2026 · peak 1/yr

Co-Author Collaboration Network

6 top collaborators · 10 mutual co-author links

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1 shared paperNeuroscience

Bing RenORCID

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2 papers

Recent·Most cited

BioinformaticsbioRxivPreprintJul 10, 2026

Coordinate- and Sequence-Based Features for a new Combined Annotation-Dependent Depletion Framework of Structural Variants (CADD-SV v2.0)

Orazio Catona, Martin Kircher

CADD-SV v2.0 improves variant prioritization by integrating coordinate- and sequence-based features, outperforming previous versions and other tools for structural variant deleteriousness scoring.

DOI 10.64898/2026.07.08.736040

humannon-human primate

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NeuroscienceInternational Journal of Molecular SciencesPeer-reviewedJul 19, 2022

Bridging between mouse and human enhancer-promoter long-range interactions in neural stem cells, to understand enhancer function in neurodevelopmental disease

Romina D’Aurizio, Orazio Catona, Mattia Pitasi…·Silvia K. Nicolis

The paper maps enhancer-promoter interactions from mouse neural stem cells to the human genome, identifying disease-associated variants that affect enhancer function in neurodevelopmental disorders.

8 citations

mousehuman

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