ArticleBMC biotechnology2010
High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays.
Article in BMC biotechnology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
27 citing papers in PubMed.
- Trial
- Functional Profiling ofCirculation. Genomic and precision medicine · 2025Article
- Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach.PloS one · 2017Article
- Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.Human genetics · 2016Article
- Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis.Molecular vision · 2016Article
- Application of a New Genetic Deafness Microarray for Detecting Mutations in the Deaf in China.PloS one · 2016Article
- Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technology.BMC medical genetics · 2015Article
- Development of a high-throughput resequencing array for the detection of pathogenic mutations in osteogenesis imperfecta.PloS one · 2015Article
- Inosine triphosphate pyrophosphohydrolase (ITPA) polymorphic sequence variants in adult hematological malignancy patients and possible association with mitochondrial DNA defects.Journal of hematology & oncology · 2013Article
- The future role of genetic screening to detect newborns at risk of childhood-onset hearing loss.International journal of audiology · 2013Review
- Article
- Genetics: advances in genetic testing for deafness.Current opinion in pediatrics · 2012Review
- A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.Neurogenetics · 2012Article
- Genetics of hearing loss: where are we standing now?European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2012Review
- A low-cost exon capture method suitable for large-scale screening of genetic deafness by the massively-parallel sequencing approach.Genetic testing and molecular biomarkers · 2012Article
- Article
- Subcellular localization of the transmembrane inner ear (Tmie) protein in a stable Tmie-expressing cell line.Laboratory animal research · 2011Article
- High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy.Investigative ophthalmology & visual science · 2011Article
- Large scale mtDNA sequencing reveals sequence and functional conservation as major determinants of homoplasmic mtDNA variant distribution.Mitochondrion · 2011Article
- Insights into N-calls of mitochondrial DNA sequencing using MitoChip v2.0.BMC research notes · 2011Article
Corrections and comments
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Authors and funding
8 authors.
Funding
Abstract
backgroundDespite current knowledge of mutations in 45 genes that can cause nonsyndromic sensorineural hearing loss (SNHL), no unified clinical test has been developed that can comprehensively detect mutations in multiple genes. We therefore designed Affymetrix resequencing microarrays capable of resequencing 13 genes mutated in SNHL (GJB2, GJB6, CDH23, KCNE1, KCNQ1, MYO7A, OTOF, PDS, MYO6, SLC26A5, TMIE, TMPRSS3, USH1C). We present results from hearing loss arrays developed in two different research facilities and highlight some of the approaches we adopted to enhance the applicability of resequencing arrays in a clinical setting.
resultsWe leveraged sequence and intensity pattern features responsible for diminished coverage and accuracy and developed a novel algorithm, sPROFILER, which resolved >80% of no-calls from GSEQ and allowed 99.6% (range: 99.2-99.8%) of sequence to be called, while maintaining overall accuracy at >99.8% based upon dideoxy sequencing comparison.
conclusionsTogether, these findings provide insight into critical issues for disease-centered resequencing protocols suitable for clinical application and support the use of array-based resequencing technology as a valuable molecular diagnostic tool for pediatric SNHL and other genetic diseases with substantial genetic heterogeneity.
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