Examples - Gene name: SETD1A, Ensembl gene ID: ENSG00000055130
The Schizophrenia Exome Sequencing Meta-analysis (SCHEMA) consortium is a large multi-site collaboration dedicated to aggregating, generating, and analyzing high-throughput sequencing data of schizophrenia patients to improve our understanding of disease architecture and advance gene discovery.
The Phase I data set (GRCh37/hg19) contains the analysis of exomes from 24,248 cases and 97,322 controls, and de novo mutations from 3,402 parent-proband trios. These results have pinpointed genome-wide significant results associating ultra-rare protein-coding variants in individual genes to risk of schizophrenia. For more information, see our preprint: Exome sequencing identifies rare coding variants in 10 genes which confer substantial risk for schizophrenia.
We would like to thank the many tens of thousands of patients and families who generously contributed to our effort. This project is made possible by the generosity of many funders, including the Stanley Family Foundation, National Institutes of Mental Health (NIMH), National Human Genome Research Institute (NHGRI), Kent and Elizabeth Dauten Foundation, and the Dalio Foundation. The contributing groups and the terms of use are listed on separate pages.
Exome results browser last updated September 10th, 2020.