CNValidatron: accurate and efficient validation of PennCNV calls using computer vision
Published in BMC Bioinformatics, 2025
This paper presents a novel approach for validating copy number variant calls using computer vision techniques. Open access!
Publications
This page lists all peer-review journal articles resulted from projects I led or strongly contributed to. You can also find all my articles on my Google Scholar profile.
First Author Publications
Analysis of exonic deletions in a large population study provides novel insights into NRXN1 pathology
Published in npj Genomic Medicine, 2024
Large population-based association study of exonic deletions at the NRXN1 locusand their risk of neurodevelopmental disorders. Open access!
Accurate and Effective Detection of Recurrent Copy Number Variants in Large SNP Genotype Datasets
Published in Current Protocols, 2022
Modern protocol to detct and process CNVs in large SNP genotype datasets, with a focus on biobank-scale resources. Open access!
Second Author Publications
Population-Based Risk of Psychiatric Disorders Associated With Recurrent Copy Number Variants
Published in JAMA Psychiatry, 2024
Large population-based study of recurrent copy number variants and risk of psychiatric disorders in the iPSYCH cohort.
Associations of psychiatric disorders with sex chromosome aneuploidies in the Danish iPSYCH2015 dataset: a case-cohort study
Published in The Lancet Psychiatry, 2023
Large population-based study of recurrent sex chromosome aneuploidies and risk of psychiatric disorders in the iPSYCH cohort.