Other

Dataset Information

1K

Centre for Addiction & Mental Health


ABSTRACT: Organisation EGAO00000000920

PROVIDER: EGAO00000000920 | EGA |

REPOSITORIES: EGA

altmetric image

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]

Similar Datasets

| EGAO00000001067 | EGA
| EGAO00000001291 | EGA
| EGAO00000001208 | EGA
| EGAO00000001348 | EGA
| EGAO00000000131 | EGA
| EGAO00000000582 | EGA
| EGAO00000000286 | EGA
| EGAO00000001276 | EGA
| EGAO00000000715 | EGA
| EGAO00000000091 | EGA