Author

Arcangela De Nicolo

IRCCS Ospedale San RaffaeleORCID 0000-0002-7275-5571Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Cancer Biology· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

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

Frequent Co-Authors

A. Heather EliasseniD· 1 shared Aedín C. CulhaneiD· 1 shared Alfonso ValenciaiD· 1 shared Alison M. DunningiD· 1 shared Alpa V. PateliD· 1 shared Amy Trentham‐DietziD· 1 shared Anders EdsjöiD· 1 shared Andreas HadjisavvasiD· 1 shared

Activity by Year

2024-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

1 shared paperGenetic & Genomic Medicine

A. Heather EliassenORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Genetic & Genomic MedicineNature CommunicationsPeer-reviewedMay 24, 2025

Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification

Maria Zanti, Denise G O'Mahony, Michael T. Parsons…·Gary Zirpoli

The paper uses case-control data from over 400,000 women to classify BRCA1 and BRCA2 variants, finding high consistency with ClinVar annotations for 785 previously unclassified variants.

11 citationstop 2%

humanwhole-exome sequencing

𝕏 PostBluesky

Cancer BiologyNature GeneticsPeer-reviewedMay 1, 2024

The Minimal Dataset for Cancer of the 1+Million Genomes Initiative

Michela Riba, Cinzia Felicita Sala, Aedín C. Culhane…·Giovanni Tonon

The paper develops a standardized data model for cancer genomics to enable interoperable data sharing across countries.

9 citations

whole-genome sequencingbenchmark study

𝕏 PostBluesky