TY  - JOUR
A1  - Vona, Barbara
A1  - Hofrichter, Michaela A. H.
A1  - Schröder, Jörg
A1  - Shehata-Dieler, Wafaa
A1  - Nanda, Indrajit
A1  - Haaf, Thomas
T1  - Hereditary hearing loss SNP-microarray pilot study
JF  - BMC Research Notes
N2  - 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 the 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. These anonymized SNP-microarray data have been uploaded to the NCBI Gene Expression Omnibus and are intended to benefit other investigators interested in aggregating platform-matched array patient datasets or as part of a supporting reference tool for other laboratories to better understand recurring copy number variations in other genetic disorders.
KW  - copy number variation
KW  - genotyping arrays
KW  - hereditary hearing loss
KW  - illumina
KW  - infinium HumanOmni1-Quad
KW  - SNP-microarray
Y1  - 2018
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-176239
VL  - 11
IS  - 391
ER  -