Recurrent Copy Number Variants and Psychiatric Outcomes in the Context of Polygenic Scores
Morteza Vaez, Simone Montalbano, Ryan Waples, Morten Dybdahl Krebs, Kajsa-Lotta Georgii Hellberg, Jesper Gådin, Daniel Stow, Peter Holmans, Marianne van den Bree, Anders D. Børglum, Dorte Helenius, Thomas Werge, Andrew J. Schork, Andrés Ingason · 2026
Read Recurrent Copy Number Variants and Psychiatric Outcomes in the Context of Polygenic Scores by Morteza Vaez, Simone Montalbano, Ryan Waples, Morten Dybdahl Krebs, Kajsa-Lotta Georgii Hellberg, Jesper Gådin, Daniel Stow, Peter Holmans, Marianne van den Bree, Anders D. Børglum, Dorte Helenius, Thomas Werge, Andrew J. Schork, Andrés Ingason (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/PMC13217261.txt.
Description
Vaez and co-authors weigh two kinds of genetic risk for psychiatric disorders together. Their 2026 study uses the Danish iPSYCH2015 case-cohort, covering 140,116 people drawn from national birth records, including over 92,000 with hospital diagnoses such as depression, autism, ADHD, and schizophrenia. The team examined recurrent copy number variants, rare deletions or duplications of DNA chunks, alongside polygenic scores, which sum many small common-variant effects.
The authors estimated absolute risks from each factor alone and in combination. They also asked what share of the population carries a polygenic burden matching a copy number variant's risk. They also compared polygenic profiles between variant carriers and non-carriers to probe whether cases arise through different routes. The study is designed to give clinically interpretable risk numbers rather than relative measures alone, across several disorders in one population sample.
Catalog record
| CREATOR | Morteza Vaez, Simone Montalbano, Ryan Waples, Morten Dybdahl Krebs, Kajsa-Lotta Georgii Hellberg, Jesper Gådin, Daniel Stow, Peter Holmans, Marianne van den Bree, Anders D. Børglum, Dorte Helenius, Thomas Werge, Andrew J. Schork, Andrés Ingason |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 29 KB |
| LICENSE | https://creativecommons.org/licenses/by/4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |