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| Status |
Public on Jun 14, 2020 |
| Title |
Episignatures stratifying ADNP syndrome show modest correlation with phenotype [RNA-seq] |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by high throughput sequencing
|
| Summary |
We conducted an independent study on 24 individuals with ADNP syndrome and replicated the existence of the two mutation-dependent ADNP episignatures. To probe whether the two distinct episignatures correlate with clinical outcomes, we used deep behavioral and neurobiological data from two prospective cohorts of individuals with a genetic diagnosis of ADNP syndrome.
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| |
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| Overall design |
Examination of genome-wide methylation and gene expression, with deep clinical phenotypes from individuals with ADNP mutations.
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| |
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| Contributor(s) |
Breen MS, De Rubeis S |
| Citation(s) |
32758449 |
| |
| Submission date |
Jun 13, 2020 |
| Last update date |
Sep 14, 2020 |
| Contact name |
Michael S Breen |
| Organization name |
Ichan School of Medicine at Mount Sinai
|
| Department |
Depts. of Psychiatry, Genetics and Genomic Sciences
|
| Street address |
1468 Madison Ave
|
| City |
New York |
| State/province |
NY |
| ZIP/Postal code |
10029 |
| Country |
USA |
| |
|
| Platforms (1) |
| GPL16791 |
Illumina HiSeq 2500 (Homo sapiens) |
|
| Samples (36)
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| This SubSeries is part of SuperSeries: |
| GSE152428 |
Episignatures stratifying ADNP syndrome show modest correlation with phenotype |
|
| Relations |
| BioProject |
PRJNA639278 |
| SRA |
SRP267181 |
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