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- Study Description
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Important Links and Information
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- Instructions for requestors
- Data Use Certification (DUC) Agreement
- Talking Glossary of Genetic Terms
The goal of this study was to generate new therapeutic hypotheses by targeted sequencing of 161 genes most likely to harbor schizophrenia (SCZ) causal variants in multi-ancestry schizophrenia case-control cohorts.
The gene panel was intended to contain putative SCZ risk genes, from within which, the majority of new discoveries from additional WES/WGS would come. To this end, we integrated current knowledge of the genetic architecture of SCZ (results from The Schizophrenia Exome Sequencing Meta-Analysis Consortium, or SCHEMA) and gene membership in gene sets that have been implicated in SCZ using a Bayesian framework. A total of 23,352 individuals selected to be non-overlapping with SCHEMA, as well as other previous and ongoing sequencing efforts in the field, were identified from over 20 individual study sites. Sequencing of the exonic regions of 161 prioritized genes was performed on the Ion Torrent platform in between June 2018 and April 2019. Sequencing plates were matched with respect to ancestry and case/control composition whenever possible. The average sequencing depth across all samples was 224x. Single sample calling was performed using Torrent Variant Caller v5.8.0, which is specially optimized to exploit the underlying flow signal information generated by the Ion Torrent sequencing.
The schizophrenia case-control status was obtained from each original study site.
- Study Design:
- Case-Control
- Study Type:
- Case-Control
- Total number of consented subjects: 8543
- Subject Sample Telemetry Report (SSTR)
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- Authorized Access
- Publicly Available Data
- Link to other NCBI resources related to this study
- Study Inclusion/Exclusion Criteria
To ensure compatibility with Psychiatric Genomics Consortium (PGC) definitions, cases were defined as those having a diagnosis of schizophrenia or schizoaffective disorders, and controls were individuals without a known diagnosis of a psychiatric disorder.
- Selected Publications
- Diseases/Traits Related to Study (MeSH terms)
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- Primary Phenotype: Schizophrenia
- Links to Related Genes
- Authorized Data Access Requests
- Study Attribution
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Principal Investigators
- Alexander Charney, MD, PhD. Dept. of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
- Laura M. Huckins, PhD. Dept. of Psychiatry, Yale University School of Medicine, New Haven, CT, USA.
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Lead Data Analyst
- Dongjing Liu, PhD. Dept. of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
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Funding Sources
- 5U01MH109536. National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA.
- 3U01MH109536. Icahn School of Medicine at Mount Sinai, New York, NY, USA.
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Principal Investigators