Information:
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ID
45559
Description
Principal Investigator: MeSH: Schizophrenia https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000687 The primary aim of this study is to whole exome sequence complete Bulgarian trios to identify de novo mutations in schizophrenic probands. We are investigating the rate of de novo mutations in probands as well as looking for enrichment among previously implicated genes and synaptic gene sets.
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Keywords
Versions (1)
- 1/10/23 1/10/23 - Simon Heim
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dbGAP
Uploaded on
January 10, 2023
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License
Creative Commons BY 4.0
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dbGaP phs000687 Bulgarian Schizophrenia Trio Sequencing Study
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, and affection status of participants with or without schizophrenia and involved in the "Bulgarian Trio Sequencing Study to Identify de Novo Mutations in Schizophrenia" project.
- Family ID, subject ID, father ID, mother ID, and sex of participants with or without schizophrenia and involved in the "Bulgarian Trio Sequencing Study to Identify de Novo Mutations in Schizophrenia" project.
- Subject ID, sample ID, sample source, sample source ID, and sample use variable of participants with or without schizophrenia and involved in the "Bulgarian Trio Sequencing Study to Identify de Novo Mutations in Schizophrenia" project.
- Subject ID, sex, primary disease, analysis category, site where sequencing occurred, and samples meeting 80% of targets at 20X coverage, and obtained from participants with or without schizophrenia and involved in the "Bulgarian Trio Sequencing Study to Identify de Novo Mutations in Schizophrenia" project.
- Sample ID, body site where sample was obtained, analyte type, histological type of sample, and tumor status of sample associated with participants with or without schizophrenia and involved in the "Bulgarian Trio Sequencing Study to Identify de Novo Mutations in Schizophrenia" project.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, and affection status of participants with or without schizophrenia and involved in the "Bulgarian Trio Sequencing Study to Identify de Novo Mutations in Schizophrenia" project.
- Family ID, subject ID, father ID, mother ID, and sex of participants with or without schizophrenia and involved in the "Bulgarian Trio Sequencing Study to Identify de Novo Mutations in Schizophrenia" project.
- Subject ID, sample ID, sample source, sample source ID, and sample use variable of participants with or without schizophrenia and involved in the "Bulgarian Trio Sequencing Study to Identify de Novo Mutations in Schizophrenia" project.
- Subject ID, sex, primary disease, analysis category, site where sequencing occurred, and samples meeting 80% of targets at 20X coverage, and obtained from participants with or without schizophrenia and involved in the "Bulgarian Trio Sequencing Study to Identify de Novo Mutations in Schizophrenia" project.
- Sample ID, body site where sample was obtained, analyte type, histological type of sample, and tumor status of sample associated with participants with or without schizophrenia and involved in the "Bulgarian Trio Sequencing Study to Identify de Novo Mutations in Schizophrenia" project.
Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
C0680251 (UMLS CUI [1,2])
Probands of this study (N=623), were included as schizophrenic cases with the criteria of a positive history of hospitalization for schizophrenia or schizoaffective disorder from psychiatric hospitals in Bulgaria. Patients attended, and graduated with a passing grade, from mainstream schools, which excluded people with intellectual disability (mental retardation).
Item
Probands of this study (N=623), were included as schizophrenic cases with the criteria of a positive history of hospitalization for schizophrenia or schizoaffective disorder from psychiatric hospitals in Bulgaria. Patients attended, and graduated with a passing grade, from mainstream schools, which excluded people with intellectual disability (mental retardation).
boolean
C0036341 (UMLS CUI [1,1])
C0947630 (UMLS CUI [1,2])
C0036337 (UMLS CUI [1,3])
C0020021 (UMLS CUI [1,4])
C0679831 (UMLS CUI [1,5])
C0237640 (UMLS CUI [1,6])
C3244287 (UMLS CUI [1,7])
C2828389 (UMLS CUI [1,8])
C3714756 (UMLS CUI [1,9])
C0947630 (UMLS CUI [1,2])
C0036337 (UMLS CUI [1,3])
C0020021 (UMLS CUI [1,4])
C0679831 (UMLS CUI [1,5])
C0237640 (UMLS CUI [1,6])
C3244287 (UMLS CUI [1,7])
C2828389 (UMLS CUI [1,8])
C3714756 (UMLS CUI [1,9])
Parents are also classified as schizophrenic cases if they meet the criteria of a positive history of hospitalization for schizophrenia or schizoaffective disorder from psychiatric hospitals in Bulgaria.
Item
Parents are also classified as schizophrenic cases if they meet the criteria of a positive history of hospitalization for schizophrenia or schizoaffective disorder from psychiatric hospitals in Bulgaria.
boolean
C0036341 (UMLS CUI [1,1])
C0036337 (UMLS CUI [1,2])
C0679831 (UMLS CUI [1,3])
C0019993 (UMLS CUI [1,4])
C0020021 (UMLS CUI [1,5])
C0006368 (UMLS CUI [1,6])
C0036337 (UMLS CUI [1,2])
C0679831 (UMLS CUI [1,3])
C0019993 (UMLS CUI [1,4])
C0020021 (UMLS CUI [1,5])
C0006368 (UMLS CUI [1,6])