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Dataset Information

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Centre for Addiction & Mental Health


ABSTRACT: Organisation EGAO00000000920

PROVIDER: EGAO00000000920 | EGA |

REPOSITORIES: EGA

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Publications


Chromosome 22q11.2 microdeletions impart a high but incomplete risk for schizophrenia. Possible mechanisms include genome-wide effects of DGCR8 haploinsufficiency. In a proof-of-principle study to assess the power of this model, we used high-quality, whole-genome sequencing of nine individuals with 22q11.2 deletions and extreme phenotypes (schizophrenia, or no psychotic disorder at age >50 years). The schizophrenia group had a greater burden of rare, damaging variants impacting protein-coding ne  ...[more]

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