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| Status |
Public on Mar 31, 2020 |
| Title |
Detection of CNVs in patients with syndromic intellectual disability |
| Organism |
Homo sapiens |
| Experiment type |
Genome variation profiling by SNP array
SNP genotyping by SNP array
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| Summary |
Illumina whole genome SNP (single nucleotide polymorphism) microarray analysis was carried out on the patient in order to determine copy number variations and to assess their disease etiopathogenesis.
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| Overall design |
A SNP-CGH test was carried out on the patient in order to determine copy number variations and to assess their disease etiopathogenesis. This approach consists of three main steps. First, the SNP genotyping consists from DNA amplification,First, the SNP genotyping consists from DNA amplification, fragmentation, precipitation, resuspendation, DNA hybridization on SNP chips, washing, dyeing and scanning of SNP chips. Second, primary analysis of results includes project establishment using Genotyping Module v1.9 software, genome visualisation tool of GenomeStudio™ Genotyping Module v1.9 software and QuantiSNP v2.1 software for determining CNVs. The third step includes biocomputational analysis of CNVs in Genome browser of GenomeStudio™ Genotyping Module v1.9 software and in DGV, Decipher and in others databases.
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| Contributor(s) |
Aleksiūnienė B, Maldžienė Ž |
| Citation(s) |
32299451 |
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| Submission date |
Mar 30, 2020 |
| Last update date |
Jun 30, 2020 |
| Contact name |
Živilė Maldžienė |
| E-mail(s) |
zivile.maldziene@mf.vu.lt
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| Organization name |
Vilnius University
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| Street address |
Santariškių str. 2
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| City |
Vilnius |
| ZIP/Postal code |
LT - 08661 |
| Country |
Lithuania |
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| Platforms (1) |
| GPL13829 |
Illumina HumanCytoSNP-12 v2.1 BeadChip |
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| Samples (1) |
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| Relations |
| BioProject |
PRJNA616272 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE147730_RAW.tar |
4.0 Mb |
(http)(custom) |
TAR (of IDAT) |
| GSE147730_signal_intensities.txt.gz |
3.5 Mb |
(ftp)(http) |
TXT |
| Processed data included within Sample table |
| Processed data are available on Series record |
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