Hearing loss (HL) is the most frequent sensory impairment. The incidence is 1–2 in 1000 neonates (http://hearing. screening.nhs.uk/nationalprog), with approximately 50–70% of cases being related to genetic causes. Autosomal recessive mode of inheritance is highly heterogeneous, for which over 100 mapped loci are known to be involved (http://hereditaryhearingloss.org). This extreme heterogeneity, as well as the assortative mating of deaf individuals, has hindered the search for HL-related genes by medical geneticists. For many years, traditional methods of genetic identification have depended on Sanger sequencing of genes in candidate regions identified through linkage. However, this approach is costly, time consuming, and unsuitable for families with inadequate numbers of available affected individuals combined with locus heterogeneity. Fortunately, a high-throughput, powerful technology known as next-generation sequencing (NGS) has been developed over the past 15 years. This revolutionary sequencing technique is capable of sequencing millions of small fragments covering the whole genome or large regions of interest, such as the entire coding portion of the genome (i.e. exome), at a reasonable cost and reduced runtime compared to Sanger sequencing.

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