ID
45723
Beschrijving
Principal Investigator: Steven McCarroll, The Broad Institute of Harvard and MIT, MA, USA MeSH: Schizophrenia,Control Groups,Parents https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001196 The substantial reproductive impact of schizophrenia, for which affected individuals have fewer than half as many offspring as unaffected individuals do, implies that mutations of largest effect will frequently be de novo mutations. Ascertaining exome sequence variation in father-mother-offspring trios allows such mutations to be identified and distinguished from the far-larger amount of rare variation that is inherited by each individual. The pursuit of this approach in a large, well-powered cohort of trios can also provide lessons that inform the development of such gene discovery strategies more generally in human genetics. Schizophrenia trios from the Taiwanese population are being collected by Dr. Ming Tsuang (PI, UC San Diego, California) and investigators in Taiwan (PI, Dr. Hai Gwo Hwu; both funded by NIMH grant 1R01MH085560; Expanding Rapid Ascertainment Networks of Schizophrenia Families in Taiwan). A total of 3800 trios are anticipated to be collected by May 2013. This represents a highly homogenous national sample from the same ancestral population. DNA samples will be obtained from the NIMH Repository, Rutgers University Cell and DNA Repository (described below) and stored at the Broad Institute. Genetic and data analyses will be performed at the Broad Institute. We propose to sequence the whole exome of trios by hybrid capture and Illumina next generation sequencing and perform targeted genotyping and validation of variants (SNPs, indels and CNVs) using several molecular methods, to include emulsion-based PCR and Sanger sequencing.
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- 24-05-23 24-05-23 - Simon Heim
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Steven McCarroll, The Broad Institute of Harvard and MIT, MA, USA
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24 mei 2023
DOI
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Creative Commons BY 4.0
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dbGaP phs001196 Schizophrenia Trios from Taiwan
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, and affection status of participants with or without schizophrenia and involved in the "NIMH (National Institute of Mental Health) De Novo Mutation Identification in Taiwanese Schizophrenia Trios" project.
- Subject ID, family ID, father ID, mother ID, and gender of participants with or without schizophrenia and involved in the "NIMH (National Institute of Mental Health) De Novo Mutation Identification in Taiwanese Schizophrenia Trios" 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 "NIMH (National Institute of Mental Health) De Novo Mutation Identification in Taiwanese Schizophrenia Trios" project.
- Sample ID, analyte type, body site where sample was obtained, histological type of sample, and tumor status of samples obtained from participants with or without schizophrenia and involved in the "NIMH (National Institute of Mental Health) De Novo Mutation Identification in Taiwanese Schizophrenia Trios" project.
- pht007727.v1.p1
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 "NIMH (National Institute of Mental Health) De Novo Mutation Identification in Taiwanese Schizophrenia Trios" project.
- Subject ID, family ID, father ID, mother ID, and gender of participants with or without schizophrenia and involved in the "NIMH (National Institute of Mental Health) De Novo Mutation Identification in Taiwanese Schizophrenia Trios" 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 "NIMH (National Institute of Mental Health) De Novo Mutation Identification in Taiwanese Schizophrenia Trios" project.
- Sample ID, analyte type, body site where sample was obtained, histological type of sample, and tumor status of samples obtained from participants with or without schizophrenia and involved in the "NIMH (National Institute of Mental Health) De Novo Mutation Identification in Taiwanese Schizophrenia Trios" project.
- pht007727.v1.p1
C0680251 (UMLS CUI [1,2])
C0079946 (UMLS CUI [1,2])
C0039260 (UMLS CUI [1,3])
C0430022 (UMLS CUI [1,2])
C1537061 (UMLS CUI [1,3])
C2827447 (UMLS CUI [1,4])
C0243161 (UMLS CUI [1,2])
C0036341 (UMLS CUI [1,3])
C0005767 (UMLS CUI [1,2])
C0030551 (UMLS CUI [1,3])
C0037047 (UMLS CUI [1,4])