ID
45464
Description
Principal Investigator: Shaun Purcell, PhD, Broad Institute, Cambridge, MA, USA MeSH: Schizophrenia https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000473 Current findings of the genetic risk of schizophrenia and bipolar disorder emerging from genome wide association studies (GWAS) support a highly polygenic model displaying the full spectrum of causal alleles that includes the extremes of rare, penetrant alleles as well as common alleles of small effect. Lower frequency polymorphism, rare variants and private mutations have eluded measurement by GWAS studies and thus association with disease. In order to create a comprehensive catalogue of low frequency or rare coding variation in individuals with psychiatric disease and to build a foundation for future genetic studies of schizophrenia and bipolar disorder, we have obtained whole exome DNA sequence from a population-based schizophrenia and bipolar disorder Swedish case-control cohort.
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Versions (2)
- 10/20/22 10/20/22 - Simon Heim
- 12/13/22 12/13/22 - Kristina Keller
Copyright Holder
Shaun Purcell, PhD, Broad Institute, Cambridge, MA, USA
Uploaded on
December 13, 2022
DOI
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License
Creative Commons BY 4.0
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dbGaP phs000473 Sweden-Schizophrenia Population-Based Case-Control Exome Sequencing
Subject ID, consent group, and affection status of participants with or without schizophrenia and involved in the "Sweden-Schizophrenia Population-Based Case-Control Exome Sequencing" project.
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, and affection status of participants with or without schizophrenia and involved in the "Sweden-Schizophrenia Population-Based Case-Control Exome Sequencing" project.
- Subject ID, sample ID, sample source, source sample ID, and sample use variable obtained from participants with or without schizophrenia and involved in the "Sweden-Schizophrenia Population-Based Case-Control Exome Sequencing" project.
- Subject ID, sex, primary disease of participant, analysis category [case or control], sequencing site, and samples meeting 80% of targets of participants with or without schizophrenia and involved in the "Sweden-Schizophrenia Population-Based Case-Control Exome Sequencing" project.
- Sample ID, body site where sample was obtained, analyte type, histological type of sample, and tumor status of sample obtained from participants with or without schizophrenia and involved in the "Sweden-Schizophrenia Population-Based Case-Control Exome Sequencing" project.
Similar models
Subject ID, consent group, and affection status of participants with or without schizophrenia and involved in the "Sweden-Schizophrenia Population-Based Case-Control Exome Sequencing" project.
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, and affection status of participants with or without schizophrenia and involved in the "Sweden-Schizophrenia Population-Based Case-Control Exome Sequencing" project.
- Subject ID, sample ID, sample source, source sample ID, and sample use variable obtained from participants with or without schizophrenia and involved in the "Sweden-Schizophrenia Population-Based Case-Control Exome Sequencing" project.
- Subject ID, sex, primary disease of participant, analysis category [case or control], sequencing site, and samples meeting 80% of targets of participants with or without schizophrenia and involved in the "Sweden-Schizophrenia Population-Based Case-Control Exome Sequencing" project.
- Sample ID, body site where sample was obtained, analyte type, histological type of sample, and tumor status of sample obtained from participants with or without schizophrenia and involved in the "Sweden-Schizophrenia Population-Based Case-Control Exome Sequencing" project.
C1257890 (UMLS CUI [1,2])
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