0 Évaluations

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. 29-04-23 29-04-23 - Simon Heim
Détendeur de droits

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

Téléchargé le

29 april 2023

DOI

Pour une demande vous connecter.

Licence

Creative Commons BY 4.0

Modèle Commentaires :

Ici, vous pouvez faire des commentaires sur le modèle. À partir des bulles de texte, vous pouvez laisser des commentaires spécifiques sur les groupes Item et les Item.

Groupe Item commentaires pour :

Item commentaires pour :


    Aucun commentaire

    Vous devez être connecté pour pouvoir télécharger des formulaires. Veuillez vous connecter ou s’inscrire gratuitement.

    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
    De-identified Sample ID
    Description

    SAMPLE_ID

    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 [2,1]
    C2347026
    UMLS CUI [2,2]
    C0007634
    UMLS CUI [2,3]
    C0449560
    UMLS CUI [3,1]
    C1292533
    UMLS CUI [3,2]
    C0332307
    UMLS CUI [4,1]
    C1292533
    UMLS CUI [4,2]
    C0449560

    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])

    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