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ID

45842

Description

Principal Investigator: Steven McCarroll, PhD, The Broad Institute of MIT and Harvard, Cambridge, MA, USA MeSH: Schizophrenia,Bipolar Disorder https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001020 The Center for Genomic Psychiatry at the University of Southern California (USC), SUNY Downstate and an extensive network of academic medical centers have created the Genomic Psychiatry Cohort (GPC). The GPC consists of a large clinical cohort of patients with schizophrenia, bipolar disorder, and healthy controls. The data generation of genotyping and whole genome sequencing of the GPC has been done in collaboration with the USC and the Broad Institute of MIT and Harvard. Genome-wide association studies are being performed with the samples to identify genetic risks for psychiatric disease. Genotyping is also being used to determine ancestry informative markers and replication of candidate genes. Whole genome sequencing identifies functional variants associated with disease risk.

Lien

https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001020

Mots-clés

  1. 24/08/2023 24/08/2023 - Arman Ghanaat
Détendeur de droits

Steven McCarroll, PhD, The Broad Institute of MIT and Harvard, Cambridge, MA, USA

Téléchargé le

24 août 2023

DOI

Pour une demande vous connecter.

Licence

Creative Commons BY 4.0

Modèle Commentaires :

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    dbGaP phs001020 Genomic Psychiatry Cohort (GPC) Whole Genome Sequencing and Genotyping Study

    This sample attributes table informs of body site where sample was collected, sample analyte type, sample tumor status, sample histology, whether 30X mean coverage was achieved in the sample during sequencing, and site where sequencing took place.

    pht005784
    Description

    pht005784

    Alias
    UMLS CUI [1,1]
    C3846158
    De-identified Sample ID
    Description

    SAMPID

    Type de données

    string

    Alias
    UMLS CUI [1,1]
    C4684638
    UMLS CUI [1,2]
    C1299222
    Body site where sample was collected
    Description

    BODY_SITE

    Type de données

    string

    Alias
    UMLS CUI [1,1]
    C0449705
    Analyte Type
    Description

    ANALYTE_TYPE

    Type de données

    string

    Alias
    UMLS CUI [1,1]
    C4744818
    Tumor status
    Description

    IS_TUMOR

    Type de données

    text

    Alias
    UMLS CUI [1,1]
    C0475752
    Cell or tissue type or subtype of sample
    Description

    HISTOLOGICAL_TYPE

    Type de données

    string

    Alias
    UMLS CUI [1,1]
    C2347026
    UMLS CUI [1,2]
    C0007634
    UMLS CUI [1,3]
    C0332307
    UMLS CUI [1,4]
    C0449560
    UMLS CUI [1,5]
    C1292533
    Samples meeting 30X mean coverage encoded value
    Description

    Coverage_Pass

    Type de données

    text

    Alias
    UMLS CUI [1,1]
    C1294197
    UMLS CUI [1,2]
    C4743987
    UMLS CUI [1,3]
    C3816446
    Site where sequencing occurred
    Description

    SITE

    Type de données

    string

    Alias
    UMLS CUI [1,1]
    C5667250

    Similar models

    This sample attributes table informs of body site where sample was collected, sample analyte type, sample tumor status, sample histology, whether 30X mean coverage was achieved in the sample during sequencing, and site where sequencing took place.

    Name
    Type
    Description | Question | Decode (Coded Value)
    Type de données
    Alias
    Item Group
    pht005784
    C3846158 (UMLS CUI [1,1])
    SAMPID
    Item
    De-identified Sample ID
    string
    C4684638 (UMLS CUI [1,1])
    C1299222 (UMLS CUI [1,2])
    Item
    Body site where sample was collected
    string
    C0449705 (UMLS CUI [1,1])
    Code List
    Body site where sample was collected
    CL Item
    BLOOD (BLOOD)
    Item
    Analyte Type
    string
    C4744818 (UMLS CUI [1,1])
    Code List
    Analyte Type
    CL Item
    DNA (DNA)
    Item
    Tumor status
    text
    C0475752 (UMLS CUI [1,1])
    Code List
    Tumor status
    CL Item
    Is not a tumor (N)
    C0027651 (UMLS CUI [1,1])
    C1518422 (UMLS CUI [1,2])
    Item
    Cell or tissue type or subtype of sample
    string
    C2347026 (UMLS CUI [1,1])
    C0007634 (UMLS CUI [1,2])
    C0332307 (UMLS CUI [1,3])
    C0449560 (UMLS CUI [1,4])
    C1292533 (UMLS CUI [1,5])
    Code List
    Cell or tissue type or subtype of sample
    CL Item
    BLOOD (BLOOD)
    Item
    Samples meeting 30X mean coverage encoded value
    text
    C1294197 (UMLS CUI [1,1])
    C4743987 (UMLS CUI [1,2])
    C3816446 (UMLS CUI [1,3])
    Code List
    Samples meeting 30X mean coverage encoded value
    CL Item
    not provided (Missing)
    CL Item
    No (N)
    CL Item
    Yes (Y)
    SITE
    Item
    Site where sequencing occurred
    string
    C5667250 (UMLS CUI [1,1])

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