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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, 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.
- 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, 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.
- 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
Subject ID
string
C2348585 (UMLS CUI [1,1])
SAMPID
Item
Sample ID
string
C1299222 (UMLS CUI [1,1])
SAMP_SOURCE
Item
Original sample source
string
C0449416 (UMLS CUI [1,1])
C0370003 (UMLS CUI [1,2])
C0370003 (UMLS CUI [1,2])
SOURCE_SAMPID
Item
Sample ID obtained from source
string
C5237951 (UMLS CUI [1,1])
C0449416 (UMLS CUI [1,2])
C0449416 (UMLS CUI [1,2])
SAMPLE_USE
Item
Sample use. Seq_DNA_SNP: SNP genotypes derived from sequence data; Seq_DNA_WholeExome: Whole exome sequencing
text
C2347026 (UMLS CUI [1,1])
C1524063 (UMLS CUI [1,2])
C1524063 (UMLS CUI [1,2])