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Clinical And Cognitive Phenotyping Of Copy Number Variants Pathogenic For Neurodevelopmental Disorders From A Multi-Ancestry Biobank

2024-07-16 genetic and genomic medicine Title + abstract only
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BackgroundClinical biobanks linking electronic health records (EHRs) with genotype data are expanding, enabling investigation of genomic risk factors for psychiatric disorders. However, few recall-by-genotype (RbG) studies have been published--particularly for psychiatric risk variants in diverse healthcare systems--indicating a need for further research to inform implementation. Some rare copy number variants (CNVs) confer substantially increased risk for neurodevelopmental disorders (NDDs) and...

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