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Series GSE21958 Query DataSets for GSE21958
Status Public on Nov 01, 2010
Title Homozygosity mapping in a consanguineous family with osteogenesis imperfecta (OI)
Organism Homo sapiens
Experiment type SNP genotyping by SNP array
Genome variation profiling by SNP array
Summary Homozygosity mapping using genome-wide SNP arrys is a useful tool to map causative genes of mendelian disorders in consanguineous patients
To search for LOH (loss of heterozygosity) regions we hybridized genomic DNA from a OI patient and a normal sibling against Human610quad beadarrays from Illumina ( Genotyping data was analyzed with BeadStudio software (
Overall design Genomic DNAs from OI affected individual and non-affected sibling were hybridized each on an Illumina Human610Quad Genotyping BeadChip. Image data was analyzed using Beadstudio 3.1.3 software. CNV and LOH (larger than 1 Mb) analysis was performed using the cnvPartition 2.3.4. It was considered as a region of interest those showing LOH in the affected individual but not in the non-affected sibling.
Contributor(s) Martinez-Glez V, Ruiz-Perez VL, Lapunzina P
Citation(s) 20579626
Submission date May 21, 2010
Last update date May 24, 2013
Contact name Victor Martinez-Glez
Organization name HULP
Department INGEMM
Street address Paseo la Castellana 261
City Madrid
ZIP/Postal code 28046
Country Spain
Platforms (1)
GPL8887 Illumina Human610-Quad v1.0 BeadChip
Samples (2)
GSM546084 Affected individual
GSM546085 Non-affected sibling
BioProject PRJNA126763

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
GSE21958_raw_intensities.txt.gz 18.0 Mb (ftp)(http) TXT
Processed data included within Sample table

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