0 Ratings

ID

45685

Description

Principal Investigator: Stephen S. Rich, PhD, Center for Public Health Genomics, University of Virginia, Charlottesville, VA, USA MeSH: Diabetes Mellitus, Type 1 https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001222 The Type 1 Diabetes Genetics Consortium (T1DGC) was established to collect resources (biological samples and data) and conduct research to better understand the genetic basis of type 1 diabetes (T1D). Collection was initiated by ascertaining affected sib-pair families (both parents, two affected siblings and, when available, an unaffected sibling), collected from five geographic regions through four recruitment networks (Asia-Pacific, Europe, North America, United Kingdom). In addition, the T1DGC collected trio families (both parents and affected child) and cases and controls from low-prevalence populations (African-American, with four grandparents self-reporting as African ancestry; Mexican-American, with four grandparents self-reporting as ancestry from Mexico). The T1DGC also served as a repository for contributed collections from other studies, all meeting the broad data-sharing policy of the T1DGC, for inclusion in the genetic studies. These collections include T1D case samples ascertained from the UK Genetic Resource Investigating Diabetes (UK GRID) cohort, SEARCH for Diabetes in Youth (SEARCH), The Genetics of Kidneys in Diabetes (GoKinD), and control samples obtained from the British 1958 Birth Cohort, the UK National Blood Services collection, CLEAR (Consortium for the Longitudinal Evaluation of African-Americans with Early Rheumatoid Arthritis), the New York Cancer Project (NYCP), and other cohorts. For the NHGRI-funded Centers for Common Disease Genomics (CCDG) project, participants with T1D and ancestry-matched controls were identified through the T1DGC, either through direct ascertainment or by contribution from other sources to the T1DGC. As the CCDG has focused initially on non-Caucasian populations for whole genome sequencing, T1DGC participants of African, Mexican and Asian ancestry (targeting ~1200 cases and ~1200 controls in each ancestral group) and a small group of participants of Northern European ancestry (~100 cases, ~100 controls) were to be contributed to the study. Whole genome sequencing of T1DGC samples would be conducted at Washington University McDonnell Genome Institute and based upon matching case-control status within an ancestry group and prioritization by the CCDG.

Link

dbGaP study = phs001222

Keywords

  1. 5/2/23 5/2/23 - Simon Heim
Copyright Holder

Stephen S. Rich, PhD, Center for Public Health Genomics, University of Virginia, Charlottesville, VA, USA

Uploaded on

May 2, 2023

DOI

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License

Creative Commons BY 4.0

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    dbGaP phs001222 CCDG - Whole Genome Sequencing in Type 1 Diabetes (T1DGC)

    This sample attributes table includes body site from which sample was collected, sample analyte type, histological type, and tumor status.

    pht005910
    Description

    pht005910

    Alias
    UMLS CUI [1,1]
    C3846158
    Sample ID
    Description

    SAMPID

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C1299222
    Body site from which sample was collected
    Description

    BODY_SITE

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C1515974
    UMLS CUI [1,2]
    C0200345
    Sample nucleic acid type
    Description

    ANALYTE_TYPE

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C5419066
    Type of sample
    Description

    HISTOLOGICAL_TYPE

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C0456204
    Tumor status of the sample
    Description

    IS_TUMOR

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C0475752

    Similar models

    This sample attributes table includes body site from which sample was collected, sample analyte type, histological type, and tumor status.

    Name
    Type
    Description | Question | Decode (Coded Value)
    Data type
    Alias
    Item Group
    pht005910
    C3846158 (UMLS CUI [1,1])
    SAMPID
    Item
    Sample ID
    string
    C1299222 (UMLS CUI [1,1])
    BODY_SITE
    Item
    Body site from which sample was collected
    string
    C1515974 (UMLS CUI [1,1])
    C0200345 (UMLS CUI [1,2])
    ANALYTE_TYPE
    Item
    Sample nucleic acid type
    string
    C5419066 (UMLS CUI [1,1])
    HISTOLOGICAL_TYPE
    Item
    Type of sample
    string
    C0456204 (UMLS CUI [1,1])
    IS_TUMOR
    Item
    Tumor status of the sample
    string
    C0475752 (UMLS CUI [1,1])

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