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Items: 8

1.

Genotype-phenotype-epiphenotype analysis to decipher severity, penetrance, pleiotropy and mechanisms in CHD8-related neurodevelopmental disorder

(Submitter supplied) Peripheral blood DNA methylation (DNAm)-based episignature analysis has emerged as an important diagnostic tool. We analysed the relationship between variant type/severity, clinical phenotypes, and epiphenotypes in a cohort of individuals with rare CHD8 variants. Furthermore, we performed DNAm studies in Chd8+/- mouse neocortex to comparatively assess the effect of CHD8 loss-of-function on DNA methylome in a cross-species, cross-tissue manner.
Organism:
Mus musculus
Type:
Methylation profiling by high throughput sequencing
Platform:
GPL17021
6 Samples
Download data: TXT
Series
Accession:
GSE274977
ID:
200274977

2.

Illumina HiSeq 2500 (Mus musculus)

Organism:
Mus musculus
11102 Series
299258 Samples
Download data
Platform
Accession:
GPL17021
ID:
100017021

3.

Neocortex Chd8+/- 3

Organism:
Mus musculus
Source name:
P5 neocortex
Platform:
GPL17021
Series:
GSE274977
Download data: TXT
Sample
Accession:
GSM8463341
ID:
308463341

SRA Run Selector

4.

Neocortex Chd8+/- 2

Organism:
Mus musculus
Source name:
P5 neocortex
Platform:
GPL17021
Series:
GSE274977
Download data: TXT
Sample
Accession:
GSM8463340
ID:
308463340

SRA Run Selector

5.

Neocortex Chd8+/- 1

Organism:
Mus musculus
Source name:
P5 neocortex
Platform:
GPL17021
Series:
GSE274977
Download data: TXT
Sample
Accession:
GSM8463339
ID:
308463339

SRA Run Selector

6.

Neocortex WT 3

Organism:
Mus musculus
Source name:
P5 neocortex
Platform:
GPL17021
Series:
GSE274977
Download data: TXT
Sample
Accession:
GSM8463338
ID:
308463338

SRA Run Selector

7.

Neocortex WT 2

Organism:
Mus musculus
Source name:
P5 neocortex
Platform:
GPL17021
Series:
GSE274977
Download data: TXT
Sample
Accession:
GSM8463337
ID:
308463337

SRA Run Selector

8.

Neocortex WT 1

Organism:
Mus musculus
Source name:
P5 neocortex
Platform:
GPL17021
Series:
GSE274977
Download data: TXT
Sample
Accession:
GSM8463336
ID:
308463336

SRA Run Selector

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db=gds|term=GSE274977[Accession]|query=1|qty=2|blobid=MCID_672ef7e153006670006a774c|ismultiple=true|min_list=5|max_list=20|def_tree=20|def_list=|def_view=|url=/Taxonomy/backend/subset.cgi?|trace_url=/stat?
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