Article
Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretation.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2016
Abou Tayoun Ahmad N, Al Turki Saeed H, Oza Andrea M, Bowser Mark J, Hernandez Amy L, Funke Birgit H, Rehm Heidi L, Amr Sami S
Abstract excerpt
PURPOSE: With next generation sequencing technology improvement and cost reductions, it has become technically feasible to sequence a large number of genes in one diagnostic test. This is especially relevant for diseases with large genetic and/or phenotypic heterogeneity, such as hearing loss. However, variant interpretation remains the major bottleneck. This is further exacerbated by the lack in the clinical...
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