Dataset Information
Ena-DATASET-TCAG_HSC-21-02-2017-04:02:43:010-730 - samples
Ontology highlight
ABSTRACT:
PROVIDER: EGAD00001003187 | EGA |
REPOSITORIES: EGA
Publications
Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome.
G3 (Bethesda, Md.) 20150916 11
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]