Author

Sergi Romana

Hôpital Necker-Enfants Malades

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:database / resource· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alejandro García· 1 shared Antonio RauselliD· 1 shared Francisco Requena· 1 shared Hamza Hadj AbdallahiD· 1 shared Patrick NitschkéiD· 1 shared Valérie MalaniD· 1 shared

Activity by Year

2021-2021 · peak 1/yr

Co-Author Collaboration Network

6 top collaborators · 15 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alejandro García

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1 paper

Recent·Most cited

CNVxplorer: a web tool to assist clinical interpretation of CNVs in rare disease patients

Francisco Requena, Hamza Hadj Abdallah, Alejandro García, Patrick Nitschké, Sergi Romana, Valérie Malan, Antonio Rausell

CNVxplorer is a web tool that improves CNV interpretation in rare disease patients by integrating clinical, genomic, and epigenomic features to enhance diagnostic accuracy.

Nucleic Acids Research · May 20, 2021Peer-reviewedGenetic & Genomic Medicine