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).

Link

dbGaP study = phs001226

Keywords

  1. 4/29/23 4/29/23 - Simon Heim
Copyright Holder

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

Uploaded on

April 29, 2023

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License

Creative Commons BY 4.0

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dbGaP phs001226 Regulatory Genomics of Human Embryonic Development

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pht006168
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pht006168

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UMLS CUI [1,1]
C3846158
Subject ID
Description

SUBJECT_ID

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UMLS CUI [1,1]
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Description

CONSENT

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Alias
UMLS CUI [1,1]
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UMLS CUI [1,2]
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Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
pht006168
C3846158 (UMLS CUI [1,1])
SUBJECT_ID
Item
Subject ID
string
C2348585 (UMLS CUI [1,1])
Item
Consent group as determined by DAC
text
C0021430 (UMLS CUI [1,1])
C0441833 (UMLS CUI [1,2])
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Consent group as determined by DAC
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Health/Medical/Biomedical (NPU) (HMB-NPU) (2)

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