Exome Sequencing in Schizophrenia Families

Study ID Alternative Stable ID Type
phs000738 Parent-Offspring Trios

Study Description

Schizophrenia is a complex neuropsychiatric disorder characterized by marked genetic heterogeneity. Much of the genetic architecture of the disorder has yet to be explained, but de novo mutations appear to play an important role. We used exome sequencing of parent-offspring quads and trios to detect de novo mutations in persons with schizophrenia. Patients were more likely to harbor one or more damaging de novo mutations, as compared to their healthy siblings. The genes disrupted by damaging mutations in patients operated in processes important to early brain development.

Archive Link Archive Accession
dbGaP phs000738

Who archives the data?

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