Simone Montalbano

Sep 13, 2024 | biorxiv.org | Simone Montalbano |Andrés Ingason |Thomas Werge |Jesper Gaadin

AbstractMotivationFor more than a decade, running PennCNV on SNP array data has been the gold standard for detecting Copy Number Variants (CNVs, deletions and duplications). It is generally assumed that PennCNV has high sensitivity but poor specificity, leading to a large portion of CNV calls being false positives. Researchers often rely on manual inspection of the raw data trends to validate CNV calls. However, this approach is not feasible for more than a handful of loci in large collections.

Jun 26, 2024 | jamanetwork.com | Morteza Vaez |Simone Montalbano |Kajsa-Lotta Georgii Hellberg |Joeri J. Meijsen

Key PointsQuestion  What is the population-based prevalence and psychiatric risk associated with recurrent copy number variants (rCNVs) and how do they differ across outcomes and rCNVs? Findings  In a genetic association study of the Danish population born in 1981-2008 and followed up until 2015, most rCNV risk profiles were similar across autism, attention-deficit/hyperactivity disorder, and schizophrenia.