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Deafness in the genomics era.

机译:基因组学时代的耳聋。

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摘要

Our understanding of hereditary hearing loss has greatly improved since the discovery of the first human deafness gene. These discoveries have only accelerated due to the great strides in DNA sequencing technology since the completion of the human genome project. Here, we review the immense impact that these developments have had in both deafness research and clinical arenas. We review commonly used genomic technologies as well as the application of these technologies to the genetic diagnosis of hereditary hearing loss and to the discovery of novel deafness genes.
机译:自从发现第一个人类耳聋基因以来,我们对遗传性听力损失的理解已大大提高。自人类基因组计划完成以来,由于DNA测序技术的巨大进步,这些发现才得以加速。在这里,我们回顾了这些发展对耳聋研究和临床领域的巨大影响。我们回顾了常用的基因组技术以及这些技术在遗传性听力损失的遗传诊断和新型耳聋基因发现中的应用。

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