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

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29 aprile 2023

DOI

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Licentie

Creative Commons BY 4.0

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dbGaP phs001226 Regulatory Genomics of Human Embryonic Development

Subject - Sample Mapping - Sample Use Information

pht006169
Beschrijving

pht006169

Alias
UMLS CUI [1,1]
C3846158
Subject ID
Beschrijving

SUBJECT_ID

Datatype

string

Alias
UMLS CUI [1,1]
C2348585
Sample ID
Beschrijving

SAMPLE_ID

Datatype

string

Alias
UMLS CUI [1,1]
C1299222
Sample Use
Beschrijving

SAMPLE_USE

Datatype

text

Alias
UMLS CUI [1,1]
C2347026
UMLS CUI [1,2]
C1524063

Similar models

Subject - Sample Mapping - Sample Use Information

Name
Type
Description | Question | Decode (Coded Value)
Datatype
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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