|
| Status |
Public on May 10, 2015 |
| Title |
Transcriptome Profiling of patients with 16p11.2 rearrangements |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by array
|
| Summary |
The 600kb BP4-BP5 16p11.2 CNV (copy number variant) is associated with neuroanatomical, neurocognitive and metabolic disorders. These recurrent rearrangements are associated with reciprocal phenotypes such as obesity and underweight, macro- and microcephaly, as well as autism spectrum disorder (ASD) and schizophrenia. Here we interrogated the transcriptome of individuals carrying reciprocal CNVs in 16p11.2.
The genome-wide transcript perturbations correlated with clinical endophenotypes of the CNV and were enriched for genes associated with ASD. We uncovered a significant correlation between copy number changes and expression levels of genes mutated in ciliopathies.
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| |
|
| Overall design |
Transcriptome profiles of lymphoblastoid cell lines of 50 16p11.2 deletion carriers, 31 16p11.2 duplication carriers and 17 controls.
|
| |
|
| Contributor(s) |
Migliavacca E, Mannik K, Reymond A |
| Citation(s) |
25937446, 27240531 |
| |
| Submission date |
May 19, 2014 |
| Last update date |
Oct 24, 2019 |
| Contact name |
Alexandre Reymond |
| E-mail(s) |
alexandre.reymond@unil.ch
|
| Organization name |
UNIL
|
| Department |
CIG
|
| Lab |
Reymond
|
| Street address |
Dorigny
|
| City |
Lausanne |
| ZIP/Postal code |
1015 |
| Country |
Switzerland |
| |
|
| Platforms (1) |
| GPL13158 |
[HT_HG-U133_Plus_PM] Affymetrix HT HG-U133+ PM Array Plate |
|
| Samples (99)
|
|
| Relations |
| BioProject |
PRJNA248126 |
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