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ID

45684

Description

Principal Investigator: James P. Noonan, Ph.D, Yale School of Medicine, New Haven, CT, USA MeSH: Embryonic Development,Human Development,Brain,Extremities https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001226 We used epigenetic profiling to map active enhancers in the developing human limb and cortex as described in two published studies:- Cotney J, Leng J, Yin J, Reilly SK et al. The evolution of lineage-specific regulatory activities in the human embryonic limb. Cell 2013;154(1):185-96. - Reilly SK, Yin J, Ayoub AE, Emera D et al. Evolutionary changes in promoter and enhancer activity during human corticogenesis. Science 2015;347(6226):1155-9. We also used ChIP-seq to map binding sites for the chromatin modifier *CHD8* in the developing human brain, as described in one published study:- Cotney J, Muhle RA, Sanders SJ, Liu L et al. The autism-associated chromatin modifier *CHD8* regulates other autism risk genes during human neurodevelopment. Nat Commun 2015;6:6404. We are also depositing primary human sequence reads related to processed datasets in the Gene Expression Omnibus under the following accession numbers: GSE42413 (Cotney et al. 2013); GSE63649 (Reilly et al. 2015); GSE57369 (Cotney et al. 2015).

Lien

dbGaP study = phs001226

Mots-clés

  1. 29/04/2023 29/04/2023 - Simon Heim
Détendeur de droits

James P. Noonan, Ph.D, Yale School of Medicine, New Haven, CT, USA

Téléchargé le

29 avril 2023

DOI

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Licence

Creative Commons BY 4.0

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    dbGaP phs001226 Regulatory Genomics of Human Embryonic Development

    Sample Attribute Information (Sample Source=Brain/Limb; Tissue Type=Embryonic/Fetal)

    pht006170
    Description

    pht006170

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

    SAMPLE_ID

    Type de données

    string

    Alias
    UMLS CUI [1,1]
    C4684638 (De-identified Information)
    UMLS CUI [1,2]
    C1299222 (Sample identification number)
    SNOMED
    372274003
    Body site where sample was collected
    Description

    BODY_SITE

    Type de données

    string

    Alias
    UMLS CUI [1,1]
    C0449705 (Site of sampling)
    SNOMED
    246317007
    LOINC
    MTHU008875
    Analyte Type
    Description

    ANALYTE_TYPE

    Type de données

    string

    Alias
    UMLS CUI [1,1]
    C4744818 (Analyte Type)
    Tumor status
    Description

    IS_TUMOR

    Type de données

    text

    Alias
    UMLS CUI [1,1]
    C0475752 (Tumor status)
    SNOMED
    277058005
    Cell or tissue type or subtype of sample
    Description

    HISTOLOGICAL_TYPE

    Type de données

    string

    Alias
    UMLS CUI [1,1]
    C2347026 (Biospecimen)
    UMLS CUI [1,2]
    C0007634 (Cells)
    SNOMED
    4421005
    LOINC
    LP14738-6
    UMLS CUI [1,3]
    C0332307 (Type - attribute)
    SNOMED
    261664005
    UMLS CUI [2,1]
    C2347026 (Biospecimen)
    UMLS CUI [2,2]
    C0007634 (Cells)
    SNOMED
    4421005
    LOINC
    LP14738-6
    UMLS CUI [2,3]
    C0449560 (Subtype (attribute))
    SNOMED
    260837004
    UMLS CUI [3,1]
    C1292533 (Tissue specimen)
    SNOMED
    119376003
    UMLS CUI [3,2]
    C0332307 (Type - attribute)
    SNOMED
    261664005
    UMLS CUI [4,1]
    C1292533 (Tissue specimen)
    SNOMED
    119376003
    UMLS CUI [4,2]
    C0449560 (Subtype (attribute))
    SNOMED
    260837004

    Similar models

    Sample Attribute Information (Sample Source=Brain/Limb; Tissue Type=Embryonic/Fetal)

    Name
    Type
    Description | Question | Decode (Coded Value)
    Type de données
    Alias
    Item Group
    pht006170
    C3846158 (UMLS CUI [1,1])
    SAMPLE_ID
    Item
    De-identified Sample ID
    string
    C4684638 (UMLS CUI [1,1])
    C1299222 (UMLS CUI [1,2])
    BODY_SITE
    Item
    Body site where sample was collected
    string
    C0449705 (UMLS CUI [1,1])
    ANALYTE_TYPE
    Item
    Analyte Type
    string
    C4744818 (UMLS CUI [1,1])
    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])
    CL Item
    Is Tumor (Y)
    C0027651 (UMLS CUI [1,1])
    HISTOLOGICAL_TYPE
    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])
    C2347026 (UMLS CUI [2,1])
    C0007634 (UMLS CUI [2,2])
    C0449560 (UMLS CUI [2,3])
    C1292533 (UMLS CUI [3,1])
    C0332307 (UMLS CUI [3,2])
    C1292533 (UMLS CUI [4,1])
    C0449560 (UMLS CUI [4,2])

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