Article
Ultra-rare and common genetic variant analysis converge to implicate negative selection and neuronal processes in the aetiology of schizophrenia.
Molecular psychiatry - 1 Sept 2022
Akingbuwa Wonuola A, Hammerschlag Anke R, Bartels Meike, Nivard Michel G, Middeldorp Christel M
Abstract excerpt
Both common and rare genetic variants (minor allele frequency >1% and <0.1% respectively) have been implicated in the aetiology of schizophrenia. In this study, we integrate single-cell gene expression data with publicly available Genome-Wide Association Study (GWAS) and exome sequenced data in order to investigate in parallel, the enrichment of common and (ultra-)rare variants related to schizophrenia in several...
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