Key Points Question Are ultrarare constrained variants (URCVs) associated with reduced cognitive function in individuals diagnosed with schizophrenia? Findings In this within-case genetic association study of 802 individuals with schizophrenia… Click to show full abstract
Key Points Question Are ultrarare constrained variants (URCVs) associated with reduced cognitive function in individuals diagnosed with schizophrenia? Findings In this within-case genetic association study of 802 individuals with schizophrenia who had undergone exome sequencing and cognitive testing, significantly reduced cognitive function was found in individuals carrying URCVs. Meaning This study found that URCVs were associated with reduced general cognitive function in schizophrenia; with better annotation of pathogenic variants, genomic data may contribute to identifying those with schizophrenia at particularly high risk of cognitive impairment in whom early remedial or preventative measures can be implemented.
               
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