0 Beoordelingen

ID

45684

Beschrijving

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).

Link

dbGaP study = phs001226

Trefwoorden

  1. 29-04-23 29-04-23 - Simon Heim
Houder van rechten

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

Geüploaded op

29 april 2023

DOI

Voor een aanvraag inloggen.

Licentie

Creative Commons BY 4.0

Model Commentaren :

Hier kunt u commentaar leveren op het model. U kunt de tekstballonnen bij de itemgroepen en items gebruiken om er specifiek commentaar op te geven.

Itemgroep Commentaren voor :

Item Commentaren voor :


    Geen commentaren

    U moet ingelogd zijn om formulieren te downloaden. AUB inloggen of schrijf u gratis in.

    dbGaP phs001226 Regulatory Genomics of Human Embryonic Development

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

    pht006170
    Beschrijving

    pht006170

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

    SAMPLE_ID

    Datatype

    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
    Beschrijving

    BODY_SITE

    Datatype

    string

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

    ANALYTE_TYPE

    Datatype

    string

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

    IS_TUMOR

    Datatype

    text

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

    HISTOLOGICAL_TYPE

    Datatype

    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)
    Datatype
    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])

    Do you need help on how to use the search function? Please watch the corresponding tutorial video for more details and learn how to use the search function most efficiently.

    Watch Tutorial