Hereditary hearing loss SNP-microarray pilot study
Zitieren Sie bitte immer diese URN: urn:nbn:de:bvb:20-opus-176239
- 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 haveObjectives: 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.…
Autor(en): | Barbara VonaORCiD, Michaela A. H. Hofrichter, Jörg Schröder, Wafaa Shehata-Dieler, Indrajit Nanda, Thomas Haaf |
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URN: | urn:nbn:de:bvb:20-opus-176239 |
Dokumentart: | Artikel / Aufsatz in einer Zeitschrift |
Institute der Universität: | Medizinische Fakultät / Klinik und Poliklinik für Hals-, Nasen- und Ohrenkrankheiten, plastische und ästhetische Operationen |
Medizinische Fakultät / Institut für Humangenetik | |
Sprache der Veröffentlichung: | Englisch |
Titel des übergeordneten Werkes / der Zeitschrift (Englisch): | BMC Research Notes |
Erscheinungsjahr: | 2018 |
Band / Jahrgang: | 11 |
Heft / Ausgabe: | 391 |
Originalveröffentlichung / Quelle: | BMC Research Notes (2018) 11:391. DOI: 10.1186/s13104-018-3466-7 |
DOI: | https://doi.org/10.1186/s13104-018-3466-7 |
Allgemeine fachliche Zuordnung (DDC-Klassifikation): | 6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit |
Freie Schlagwort(e): | SNP-microarray; copy number variation; genotyping arrays; hereditary hearing loss; illumina; infinium HumanOmni1-Quad |
Datum der Freischaltung: | 25.02.2019 |
Sammlungen: | Open-Access-Publikationsfonds / Förderzeitraum 2018 |
Lizenz (Deutsch): | CC BY: Creative-Commons-Lizenz: Namensnennung 4.0 International |