0 Evaluaciones

ID

45684

Descripción

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

Palabras clave

  1. 29/4/23 29/4/23 - Simon Heim
Titular de derechos de autor

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

Subido en

29 de abril de 2023

DOI

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Licencia

Creative Commons BY 4.0

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    dbGaP phs001226 Regulatory Genomics of Human Embryonic Development

    Subject - Sample Mapping - Sample Use Information

    pht006169
    Descripción

    pht006169

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

    SUBJECT_ID

    Tipo de datos

    string

    Alias
    UMLS CUI [1,1]
    C2348585 (Clinical Trial Subject Unique Identifier)
    Sample ID
    Descripción

    SAMPLE_ID

    Tipo de datos

    string

    Alias
    UMLS CUI [1,1]
    C1299222 (Sample identification number)
    SNOMED
    372274003
    Sample Use
    Descripción

    SAMPLE_USE

    Tipo de datos

    text

    Alias
    UMLS CUI [1,1]
    C2347026 (Biospecimen)
    UMLS CUI [1,2]
    C1524063 (Use of)
    SNOMED
    260676000

    Similar models

    Subject - Sample Mapping - Sample Use Information

    Name
    Tipo
    Description | Question | Decode (Coded Value)
    Tipo de datos
    Alias
    Item Group
    pht006169
    C3846158 (UMLS CUI [1,1])
    SUBJECT_ID
    Item
    Subject ID
    string
    C2348585 (UMLS CUI [1,1])
    SAMPLE_ID
    Item
    Sample ID
    string
    C1299222 (UMLS CUI [1,1])
    Item
    Sample Use
    text
    C2347026 (UMLS CUI [1,1])
    C1524063 (UMLS CUI [1,2])
    Code List
    Sample Use
    CL Item
    Chromatin sequencing (Seq_DNA_Chromatin)
    CL Item
    Whole transcriptome sequencing (Seq_RNA)
    C4086963 (UMLS CUI [1,1])

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