Jekyll2026-03-24T15:19:06+00:00https://johnshorter.github.io/Shorter_lab_website/feed.xmlThe Shorter lab focuses on understanding the genetic mechanisms of disease, and the development and use of polygenic risk scores for disease prediction. .2025-03-09T00:00:00+00:002026-03-24T15:17:53+00:00https://johnshorter.github.io/Shorter_lab_website/2025/03/09/post-1This study provides population-based estimates for the prevalence and psychiatric disorder risk associated with recurrent copy number variants (rCNVs) by analyzing the Danish Integrative Psychiatric Research (iPSYCH) case-cohort. The overall take away was that many rCNVs are more common but carry less risk for conditions like ADHD, ASD, and SSD than previously indicated by case-control studies, suggesting overestimation of risk due to selection bias. Notably, no rCNV showed increased risk for major depressive disorder (MDD), and the risk associated with rCNVs correlated with the size and gene constraint of the affected genomic region, rather than the type of copy number change (deletion or duplication). To conclude, this study found that several rCNVs were more prevalent and conferred less risk of psychiatric disorders than estimated previously.

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