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Abstract

Rare genetic variants may play a prominent role in schizophrenia. We report on the to date largest whole exome sequencing study of schizophrenia case-control samples from related populations and combine with other available sequence data, analysing in total 34,084 individuals (14,302 cases). Three genes showed significant association at FDR < 0.10 (SETD1A, TAF13 and MKI67) and gene-set analyses highlighted the involvement of the synaptome and excitatory neurons, and demonstrated shared architecture with high-functioning autism.

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THISChick '24Sealock '26Singh '22John '19Curtis '18Lencz '21
78% semantic matchGenetic & Genomic Medicine
Sophie L Chick, Peter Holmans, Detelina Grozeva+6 more·medRxiv·Oct 14, 2024· 1 citations