Abstract Background Copy number variants (CNVs) are a well-recognized cause of genetic
disease; however, methods for their identification are often gene-specific, excluded as …

Although there are nearly 100 different causative genes identified for nonsyndromic hearing
loss (NSHL), Sanger sequencing‐based DNA diagnostics usually only analyses three …

Next-generation sequencing (NGS) technologies have played a central role in the genetic
revolution. These technologies, especially whole-exome sequencing, have become the …

Background Non-syndromic hearing loss (NSHL) is the most common sensory impairment in
humans. Until recently its extreme genetic heterogeneity precluded comprehensive genetic …

The extreme genetic heterogeneity of nonsyndromic hearing loss (NSHL) makes genetic
diagnosis expensive and time consuming using available methods. To assess the feasibility …

Extreme genetic heterogeneity along with remarkable variation in the distribution of
causative variants across in different ethnicities makes single gene testing inefficient for …

Background Sensorineural hearing loss (SNHL) is the most common sensory impairment.
Comprehensive next-generation sequencing (NGS) has become the standard for the …

Aims: We attempted to identify the genetic epidemiology of hereditary hearing loss among
the Chinese Han population using next-generation sequencing (NGS). Materials and …

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 …

Purpose Hereditary hearing loss is highly heterogeneous. To keep up with rapidly emerging
disease-causing genes, we developed the AUDIOME test for nonsyndromic hearing loss …