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| Status |
Public on Aug 16, 2024 |
| Title |
Genotype-phenotype-epiphenotype analysis to decipher severity, penetrance, pleiotropy and mechanisms in CHD8-related neurodevelopmental disorder |
| Organism |
Mus musculus |
| Experiment type |
Methylation profiling by high throughput sequencing
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| Summary |
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.
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| |
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| Overall design |
To investigate DNA methylome changes in CHD8-IDDAM mouse neocortical models.
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| |
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| Contributor(s) |
Basson AM, Mohan C |
| Citation missing |
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| |
| Submission date |
Aug 15, 2024 |
| Last update date |
Aug 17, 2024 |
| Contact name |
Albert Basson |
| E-mail(s) |
m.a.basson@exeter.ac.uk
|
| Organization name |
University of Exeter
|
| Street address |
Stocker Road
|
| City |
Exeter |
| ZIP/Postal code |
EX44PY |
| Country |
United Kingdom |
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| Platforms (1) |
| GPL17021 |
Illumina HiSeq 2500 (Mus musculus) |
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| Samples (6)
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| Relations |
| BioProject |
PRJNA1148667 |
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