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ID
45559
Beschrijving
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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- 10-01-23 10-01-23 - Simon Heim
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dbGAP
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10 januari 2023
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Creative Commons BY 4.0
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dbGaP phs000687 Bulgarian Schizophrenia Trio Sequencing Study
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.
- 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
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.
- 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)
Datatype
Alias
SUBJID
Item
De-identified subject ID
string
C4684638 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
C2348585 (UMLS CUI [1,2])
CL Item
Female (F)
C0086287 (UMLS CUI [1,1])
CL Item
Male (M)
C0086582 (UMLS CUI [1,1])
Primary Disease
Item
Primary disease of participant [Schizophrenia, Schizoaffective, Unipolar Depression, other diagnosis]
string
C0205225 (UMLS CUI [1,1])
C0012634 (UMLS CUI [1,2])
C0036341 (UMLS CUI [1,3])
C0036337 (UMLS CUI [1,4])
C0041696 (UMLS CUI [1,5])
C0012634 (UMLS CUI [1,2])
C0036341 (UMLS CUI [1,3])
C0036337 (UMLS CUI [1,4])
C0041696 (UMLS CUI [1,5])
ANALYSIS_CAT
Item
Analysis category [Unaffected, Affected ]
string
C0936012 (UMLS CUI [1,1])
C0683312 (UMLS CUI [1,2])
C0683312 (UMLS CUI [1,2])
SITE
Item
Site where sequencing occurred [Broad, Cardiff, MSSM, All three centers]
string
C1515974 (UMLS CUI [1,1])
C0200345 (UMLS CUI [1,2])
C0200345 (UMLS CUI [1,2])
CL Item
No (N)
CL Item
Yes (Y)