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- W2103755263 abstract "Next-generation sequencing (NGS) technologies have played a central role in the genetic revolution. These technologies, especially whole-exome sequencing, have become the primary tool of geneticists to identify the causative DNA variants in Mendelian disorders, including hereditary deafness. Current research estimates that 1% of all human genes have a function in hearing. To date, mutations in over 80 genes have been reported to cause nonsyndromic hearing loss (NSHL). Strikingly, more than a quarter of all known genes related to NSHL were discovered in the past 5 years via NGS technologies. In this article, we review recent developments in the usage of NGS for hereditary deafness, with an emphasis on whole-exome sequencing." @default.
- W2103755263 created "2016-06-24" @default.
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- W2103755263 date "2015-01-01" @default.
- W2103755263 modified "2023-10-11" @default.
- W2103755263 title "Whole-exome sequencing and its impact in hereditary hearing loss" @default.
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- W2103755263 doi "https://doi.org/10.1017/s001667231500004x" @default.
- W2103755263 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5503681" @default.
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