2/7 Psychiatric Genomics Consortium: Finding Actionable Variation

Massachusetts General Hospital, Boston MA

Investigators

Linked publications, trials & patents

Abstract

Abstract Schizophrenia is a debilitating psychiatric disorder affecting nearly 1% of the general population. Schizophrenia has been demonstrated to have a substantial genetic component, with common and rare variants contributing to individual risk, however early studies suggested a complex architecture with many genes likely involved. Existing PGC efforts to collaboratively aggregate and analyze genomewide association study (GWAS) data have been extremely successful ? identifying more than 100 robust genetic associations and beginning to unravel the biology of schizophrenia. Similar efforts to mirror this activity of aggregation and analysis of exome and genome sequencing data have to date not been undertaken, despite the clear potential that rare coding variation holds to expand our knowledge of disease etiology. We propose here a PGC supplement to support an effort to aggregate, harmonize, analyze and disseminate results from up to 50,000 cases of schizophrenia and a larger number of population controls to provide a critical enhancement to existing PGC efforts to study common variation. The evidence from rare, coding variants will pinpoint genes of key impact to schizophrenia risk and will develop pipelines and analytic methods that can be applied across PGC disorders.