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Series GSE111131 Query DataSets for GSE111131
Status Public on Mar 06, 2018
Title Hereditary Hearing Loss SNP-Microarray Pilot Study
Organism Homo sapiens
Experiment type Genome variation profiling by SNP array
Summary Objectives: Despite recent advancements in diagnostic tools, the genomic landscape of hereditary hearing loss remains largely uncharacterized. One strategy to understand genome-wide aberrations includes the analysis of copy number variation that can be mapped using SNP-microarray technology. A growing collection of literature has begun to uncover the importance of copy number variation in hereditary hearing loss. This pilot study underpins a larger effort that involves the stage-wise analysis of hearing loss patients, many of whom have advanced to high-throughput sequencing analysis.
Data description: Our data originate from Infinium HumanOmni1-Quad v1.0 SNP-microarrays (Illumina) that provide useful markers for genome-wide association studies and copy number variation analysis. This dataset comprises a cohort of 108 individuals (99 with hearing loss, 9 normal hearing family members) for the purpose of understanding the genetic contribution of copy number variations to hereditary hearing loss.
 
Overall design To investigate the genome-wide controbution of copy number variation, we hybridized 108 individuals (99 with hearing loss, 9 unaffected family members) on the InfiniumHuman Omni1-Quad v1.0 SNP-microarrays (Illumina).
 
Contributor(s) Vona B, Haaf T
Citation(s) 29903040
Submission date Feb 26, 2018
Last update date Jun 19, 2018
Contact name Barbara Vona
E-mail(s) barbara.vona@uni-wuerzburg.de
Phone +49 931-31-84244
Organization name University of Wuerzburg
Department Institute of Human Genetics
Lab Haaf Lab
Street address Biozentrum, Am Hubland
City Wuerzburg
State/province Bavaria
ZIP/Postal code 97074
Country Germany
 
Platforms (1)
GPL24663 Illumina HumanOmni1-Quad BeadChip
Samples (108)
GSM3022603 arr-11-013 Blood
GSM3022604 arr-11-014 Blood
GSM3022605 arr-11-015 Blood
Relations
BioProject PRJNA435998

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
GSE111131_Data_file_1.xls.gz 11.6 Kb (ftp)(http) XLS
GSE111131_Data_file_2.csv.gz 1.1 Kb (ftp)(http) CSV
GSE111131_Martix_signal_intensities.txt.gz 1.6 Gb (ftp)(http) TXT
GSE111131_Matrix_Processed.txt.gz 2.0 Gb (ftp)(http) TXT
GSE111131_RAW.tar 1.6 Gb (http)(custom) TAR (of IDAT)
Processed data are available on Series record

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