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Series GSE144918 Query DataSets for GSE144918
Status Public on Aug 01, 2020
Title Copy number variation analysis in Japanese children with Autsim Spectrum Disorder by Affymetrix Genome-Wide Human SNP Array 6.0.
Organism Homo sapiens
Experiment type Genome variation profiling by SNP array
Summary Autism spectrum disorder (ASD) is an innate neurodevelopmental disorder characterized by impairments in social communication/interaction, repetitive and restrictive behavior. Copy number variation (CNV) is a one of the structural variation of the genomic sequence, including large multiplications and deletions ranging from kb to Mb of DNA. These multiplication-deletion provide genomic diversity, while CNV affects the amount of gene products or transcriptional regulation, and result in strong association with biological process, metabolism and disease. In facts, many studies reported that the mapping of CNVs which strongly associated with ASD.
The subjects of this study were the community-based 5 years old children because they might be able to except acquired effects after birth as much as possible and focus on the genetic background, and there are possibilities that the results will be specific to the Japanese patients with ASD.
Overall design Genomic DNA from peripheral blood were isolated from 124 (boys: 62, girls: 62) healthy control subjects and 68 (boys: 45, girls: 23) patients with ASD.
Contributor(s) Shimoyama S, Sakamoto Y
Citation(s) 33591083
Submission date Feb 07, 2020
Last update date Mar 03, 2021
Contact name Shuji Shimoyama
Phone +81-172-39-5138
Organization name Hirosaki University Graduate School of Medicine
Department Department of Neurophysiology
Street address 5 Zaifu-cho
City Hirosaki
State/province Aomori
ZIP/Postal code 036-8562
Country Japan
Platforms (1)
GPL6801 [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array
Samples (192)
GSM4300828 control 1
GSM4300829 control 2
GSM4300830 control 3
BioProject PRJNA605341

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE144918_RAW.tar 7.7 Gb (http)(custom) TAR (of CEL, CHP)
Processed data provided as supplementary file

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