|
| Status |
Public on Jul 12, 2012 |
| Title |
ID patient 17 |
| Sample type |
genomic |
| |
|
| Source name |
DNA patient 17
|
| Organism |
Homo sapiens |
| Characteristics |
cell type: lymfocytes
disease: intellectual disability/autism
gender: male
age: child
|
| Treatment protocol |
None
|
| Growth protocol |
not applicable
|
| Extracted molecule |
genomic DNA |
| Extraction protocol |
Genomic DNA was extracted from peripheral blood using the Qiagen DNA Blood Mini Kit. DNA quality and quantity was assessed using a Nanodrop Spectrophotometer, PicoGreen and agarose gel electrophoresis.
|
| Label |
biotin
|
| Label protocol |
DNA was indipendently amplified and labeled according to the manufacturer's protocol.
|
| |
|
| Hybridization protocol |
The labeled DNA was hybridized to each array according to the manufacturer's instructions.
|
| Scan protocol |
Microarrays were scanned with default settings using the Ilumina iScan
|
| Description |
male with intellectual disability/autism
|
| Data processing |
Analysis and intra-chip normalization of resulting image files was performed using Illumina's GenomeStudio Module software v.2020.3 with default parameters. CNV alaysis was performed using a multi-algorithm approach as discribed in Pinto et al. Nature 2010, Pubmed ID: 2053469).
|
| |
|
| Submission date |
Apr 10, 2012 |
| Last update date |
Jul 12, 2012 |
| Contact name |
Els Voorhoeve |
| E-mail(s) |
e.voorhoeve@vumc.nl
|
| Phone |
+31204440157
|
| Organization name |
VU medical center
|
| Department |
Clinical Genetics
|
| Lab |
Cytogenetics
|
| Street address |
De Boelelaan 1117
|
| City |
Amsterdam |
| ZIP/Postal code |
1081 HV |
| Country |
Netherlands |
| |
|
| Platform ID |
GPL13314 |
| Series (2) |
| GSE37142 |
SNP array for CNV calling AUTS2 project [Illumina] |
| GSE37657 |
AUTS2 project |
|
