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Hereditary Hearing Loss SNP-Microarray Pilot Study

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NIAID Data Ecosystem2026-03-10 收录
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https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE111131
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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. 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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2018-06-19
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