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ID

45538

Beschreibung

Principal Investigator: Baylor Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston, TX, USA MeSH: Mendelian Conditions,Alstrom Syndrome,Arrhythmogenic Right Ventricular Dysplasia,Syndactyly,Craniofacial Abnormalities,Neurofibromatoses,Ullrich congenital muscular dystrophy,Aortic Aneurysm, Thoracic,Rubinstein-Taybi Syndrome,Acne Inversa,Achondroplasia,Exostoses, Multiple Hereditary,Arthrogryposis, Renal Dysfunction, And Cholestasis,Van Den Ende-Gupta Syndrome,BO Syndrome 3,SMDCRD,Loeys-Dietz Syndrome, Type 1a,Cardiomyopathy, Dilated,OI, Type VI,Sotos Syndrome,Charcot-Marie-Tooth Disease,Microcephaly https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000711 The Centers for Mendelian Genomics project uses next-generation sequencing and computational approaches to discover the genes and variants that underlie Mendelian conditions. By discovering genes that cause Mendelian conditions, we will expand our understanding of their biology to facilitate diagnosis and new treatments.

Link

dbGaP study = phs000711

Stichworte

  1. 29.12.22 29.12.22 - Simon Heim
Rechteinhaber

Baylor Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston, TX, USA

Hochgeladen am

29. Dezember 2022

DOI

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Lizenz

Creative Commons BY 4.0

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    dbGaP phs000711 Baylor Hopkins Center for Mendelian Genomics (BH CMG)

    The subject consent data table includes subject IDs and consent information for subjects included in the Baylor Hopkins Center for Mendelian Genomics (BH CMG) study.

    pht003720
    Beschreibung

    pht003720

    Alias
    UMLS CUI [1,1]
    C3846158 (Other Coding)
    LOINC
    LA4728-7
    De-identified Subject ID
    Beschreibung

    SUBJID

    Datentyp

    text

    Alias
    UMLS CUI [1,1]
    C4684638 (De-identified Information)
    UMLS CUI [1,2]
    C2348585 (Clinical Trial Subject Unique Identifier)
    Consent group as determined by DAC
    Beschreibung

    CONSENT

    Datentyp

    text

    Alias
    UMLS CUI [1,1]
    C0021430 (Informed Consent)
    UMLS CUI [1,2]
    C0441833 (Groups)
    SNOMED
    246261001

    Ähnliche Modelle

    The subject consent data table includes subject IDs and consent information for subjects included in the Baylor Hopkins Center for Mendelian Genomics (BH CMG) study.

    Name
    Typ
    Description | Question | Decode (Coded Value)
    Datentyp
    Alias
    Item Group
    pht003720
    C3846158 (UMLS CUI [1,1])
    SUBJID
    Item
    De-identified Subject ID
    text
    C4684638 (UMLS CUI [1,1])
    C2348585 (UMLS CUI [1,2])
    Item
    Consent group as determined by DAC
    text
    C0021430 (UMLS CUI [1,1])
    C0441833 (UMLS CUI [1,2])
    Code List
    Consent group as determined by DAC
    CL Item
    Subjects did not participate in the study, did not complete a consent document and are included only for the pedigree structure and/or genotype controls, such as HapMap subjects (0)
    CL Item
    Health/Medical/Biomedical (NPU) (HMB-NPU) (2)
    CL Item
    Health/Medical/Biomedical (IRB, NPU) (HMB-IRB-NPU) (3)

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