Author

Simone Montalbano

Mental Health ServicesORCID 0000-0002-9846-0560Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Bioinformatics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:GWAS / association mapping· 2 Assay:GWAS summary statistics· 2 Research Focus:benchmarking· 1 Approach:deep learning· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Andrés IngasoniD· 3 shared Thomas Mears WergeiD· 3 shared Anders Dupont BørglumiD· 2 shared Andrew Joseph SchorkiD· 2 shared Daniel H. GeschwindiD· 2 shared Dorte HeleniusiD· 2 shared Jesper R. GådiniD· 2 shared Kajsa-Lotta Georgii HellbergiD· 2 shared

Activity by Year

2023-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Andrés IngasonORCID

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Author profile →

3 papers

Recent·Most cited

CNValidatron: Accurate And Efficient Validation of PennCNV Calls Using Computer Vision

Simone Montalbano, G. Bragi Walters, Guðbjörn F. Jónsson, Jesper R. Gådin, Thomas Werge, Daniel F. Gudbjartsson, Hreinn Stefánsson, Andrés Ingason

The paper develops a convolutional neural network to automate CNV validation, achieving high accuracy comparable to human visual inspection.

BMC Bioinformatics · Jan 23, 2026Peer-reviewedBioinformatics

Evaluating the Joint Effects of Recurrent Copy Number Variants and Polygenic Scores on the Risk of Psychiatric Disorders in the iPSYCH2015 Case-Cohort Sample

Morteza Vaez, Simone Montalbano, Ryan K. Waples, Morten Dybdahl Krebs, Kajsa-Lotta Georgii Hellberg, Jesper R. Gådin, Jonas Bybjerg‐Grauholm, Preben Bo Mortensen, Anders Dupont Børglum, Merete Nordentoft, Daniel H. Geschwind, Dorte Helenius, Thomas Mears Werge, Andrew Joseph Schork, Andrés Ingason

This study examines how rare copy number variants and polygenic scores jointly affect psychiatric disorder risk in a large population sample, finding no significant interaction between the two factors.

medRxiv · Sep 23, 2024 · PreprintGenetic & Genomic Medicine

Population-based Risk of Psychiatric Disorders Associated with Recurrent CNVs

Morteza Vaez, Simone Montalbano, Xabier Calle Sánchez, Kajsa-Lotta Georgii Hellberg, Saeid Rasekhi Dehkordi, Morten Dybdahl Krebs, Joeri J. Meijsen, John R. Shorter, Jonas Byberg-Grauholm, Preben Bo Mortensen, Anders Dupont Børglum, DAVID MICHAEL HOUGAARD, Merete Nordentoft, Daniel H. Geschwind, Alfonso Buil, , Andrés Ingason

The paper estimates population-based risks of psychiatric disorders associated with 34 recurrent CNVs using a large case-cohort sample, finding moderate risks for ADHD, autism, and schizophrenia, but not depression.

medRxiv · Sep 4, 2023 · PreprintGenetic & Genomic Medicine