Article
Polygenic burden has broader impact on health, cognition, and socioeconomic outcomes than most rare and high-risk copy number variants.
Molecular psychiatry - 1 Sept 2021
Saarentaus Elmo Christian, Havulinna Aki Samuli, Mars Nina, Ahola-Olli Ari, Kiiskinen Tuomo Tapio Johannes, Partanen Juulia, Ruotsalainen Sanni, Kurki Mitja, Urpa Lea Martta, Chen Lei, Perola Markus, Salomaa Veikko, Veijola Juha, Männikkö Minna, Hall Ira M, Pietiläinen Olli, Kaprio Jaakko, Ripatti Samuli, Daly Mark, Palotie Aarno
Abstract excerpt
Copy number variants (CNVs) are associated with syndromic and severe neurological and psychiatric disorders (SNPDs), such as intellectual disability, epilepsy, schizophrenia, and bipolar disorder. Although considered high-impact, CNVs are also observed in the general population. This presents a diagnostic challenge in evaluating their clinical significance. To estimate the phenotypic differences between CNV...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.