|
| Status |
Public on Jun 01, 2021 |
| Title |
Genotyping data for sample 3493G |
| Sample type |
genomic |
| |
|
| Source name |
genomic DNA from whole blood
|
| Organism |
Homo sapiens |
| Characteristics |
gender: Male
ethnicity: Roma ancestry
celltype: DNA extracted from whole blood
|
| Extracted molecule |
genomic DNA |
| Extraction protocol |
Genomic DNA extracted using the Qiagen DNA micro kit (QIAgen, Hilden, Germany)
|
| Label |
cy3,cy5
|
| Label protocol |
Standard Illumina protocol for Infinium 2.5M Beadchip
|
| |
|
| Hybridization protocol |
Standard Illumina protocol for Infinium 2.5M Beadchip
|
| Scan protocol |
Standard Illumina protocol for Infinium 2.5M Beadchip
|
| Description |
Genomic DNA extracted was analyzed using Illumina's BeadStudio software
|
| Data processing |
Intra-chip normalization was performed using the Illumina's GenomeStudio software v.1.0.1 with a GenCall cutoff of 0.1 and call rate cutoff of 98%. For CNV calling on the Illumina 2.5M platform we used QuantiSNP, iPattern, PennCNV.
For CNV detection using different algorithms, various measurements were exported directly from GenomeStudio: the intra-chip normalized X and Y intensity values from the A and B allele-specific probes respectively, and two other measurements derived from X and Y after normalization with respect to reference population, i.e. the Log R ratios (LRR) and B allele frequency (BAF) values. For the algorithms that used LRR, representing the total signal intensity, and BAF, representing the allelic balance, the Illumina’s cluster file made of >120 HapMap was used to generate intensities and genotypes using GenomeStudio.
|
| |
|
| Submission date |
Jun 19, 2018 |
| Last update date |
Jun 02, 2021 |
| Contact name |
Stephen W Scherer |
| E-mail(s) |
[email protected]
|
| Organization name |
The Hospital for Sick Children
|
| Department |
Genetics and Genomic Biology
|
| Street address |
686 Bay Street
|
| City |
Toronto |
| State/province |
Ontario |
| ZIP/Postal code |
M5G 0A4 |
| Country |
Canada |
| |
|
| Platform ID |
GPL25201 |
| Series (1) |
| GSE116022 |
Rare Copy Number Variation in Extremely Impulsively Violent Males |
|
