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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
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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.
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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).
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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
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Phone |
+49 931-31-84244
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Organization name |
University of Wuerzburg
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Department |
Institute of Human Genetics
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Lab |
Haaf Lab
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Street address |
Biozentrum, Am Hubland
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City |
Wuerzburg |
State/province |
Bavaria |
ZIP/Postal code |
97074 |
Country |
Germany |
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Platforms (1) |
GPL24663 |
Illumina HumanOmni1-Quad BeadChip |
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Samples (108)
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Relations |
BioProject |
PRJNA435998 |