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Series GSE6754 Query DataSets for GSE6754
Status Public on Feb 20, 2007
Title Mapping autism risk loci using genetic linkage and chromosomal rearrangements
Organism Homo sapiens
Experiment type Genome variation profiling by SNP array
SNP genotyping by SNP array
Summary Autism spectrum disorders (ASD) are common, heritable neurodevelopmental conditions. The genetic architecture of ASD is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASD by using Affymetrix 10K single nucleotide polymorphism (SNP) arrays and 1168 families with = 2 affected individuals to perform the largest linkage scan to date, while also analyzing copy number variation (CNV) in these families. Linkage and CNV analyses implicate chromosome 11p12-p13 and neurexins, respectively, amongst other candidate loci. Neurexins team with previously-implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for ASD.
Keywords: Autism spectrum disorder, Affymetrix SNP genotyping, linkage analysis, copy number analysis, chromosomal rearrangements.
Overall design This is a large linkage study undertaken by The Autism Genome Project (AGP) Consortium to search for candidate genes underlying the etiology of autism. 1168 Muliplex families (= 2 affected individuals) consisting of 7600 individuals were genotyped using Affymetrix 10K whole genome mapping arrays. Copy number analysis was performed using DNA Chip (dChip) Analyzer.
Contributor(s) Scherer SW, Devlin B
Citation(s) 17322880
Submission date Jan 16, 2007
Last update date Mar 16, 2012
Contact name Christian R. Marshall
Organization name The Hospital for Sick Children
Department Genetics & Genome Biology
Street address 101 College St.
City Toronto
State/province ON
ZIP/Postal code M5G 1L7
Country Canada
Platforms (1)
GPL2641 [Mapping10K_Xba142] Affymetrix Human Mapping 10K 2.0 Array
Samples (6971)
GSM163110 1
GSM163111 2
GSM163112 3
BioProject PRJNA98949

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
GSE6754_CHP_files.tar 725.7 Mb (ftp)(http) TAR
GSE6754_RAW.tar 12.8 Gb (http)(custom) TAR (of CEL, CHP)
GSE6754_RAW_part1.tar 826.4 Mb (ftp)(http) TAR
GSE6754_RAW_part10.tar 980.9 Mb (ftp)(http) TAR
GSE6754_RAW_part11.tar 930.9 Mb (ftp)(http) TAR
GSE6754_RAW_part12.tar 954.6 Mb (ftp)(http) TAR
GSE6754_RAW_part13.tar 913.0 Mb (ftp)(http) TAR
GSE6754_RAW_part14.tar 416.2 Mb (ftp)(http) TAR
GSE6754_RAW_part15.tar 367.7 Mb (ftp)(http) TAR
GSE6754_RAW_part2.tar 792.1 Mb (ftp)(http) TAR
GSE6754_RAW_part3.tar 778.0 Mb (ftp)(http) TAR
GSE6754_RAW_part4.tar 772.2 Mb (ftp)(http) TAR
GSE6754_RAW_part5.tar 911.0 Mb (ftp)(http) TAR
GSE6754_RAW_part6.tar 817.4 Mb (ftp)(http) TAR
GSE6754_RAW_part7.tar 966.8 Mb (ftp)(http) TAR
GSE6754_RAW_part8.tar 970.0 Mb (ftp)(http) TAR
GSE6754_RAW_part9.tar 985.4 Mb (ftp)(http) TAR
Processed data provided as supplementary file

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