下一代测序技术在耳聋分子遗传学诊断中的应用。

Korean journal of audiology Pub Date : 2012-04-01 Epub Date: 2012-04-30 DOI:10.7874/kja.2012.16.1.1
Byung Yoon Choi, Bong Jik Kim
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引用次数: 2

摘要

本综述的主要目的是描述新的测序技术称为下一代测序(NGS)及其在医学领域作为分子遗传诊断工具的用途。桑格法自1975年发明以来,在过去的30年里一直主导着基因组测序行业。它产生了第一个人类基因组,至今仍是基因组测序的黄金标准。但由于测序时间较长,单样本成本较高,无法满足海量基因数据采集和处理的需求。NGS使测序过程并行化,从而以降低每个样本的成本来提高处理速度,以弥补以前方法的缺点。目前,NGS在一些医疗领域得到了应用,其应用范围正在不断扩大。NGS在遗传异质性听力疾病的研究中也起着重要作用。NGS有望在不久的将来成为基因组研究领域的一个重要里程碑。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Application of next generation sequencing upon the molecular genetic diagnosis of deafness.

Application of next generation sequencing upon the molecular genetic diagnosis of deafness.

Application of next generation sequencing upon the molecular genetic diagnosis of deafness.

The main objective of this review is to describe the new sequencing technologies called next generation sequencing (NGS) and its utility as a molecular genetic diagnosis tool in a medical field. Sanger method has dominated the genome sequencing industry for the past 30 years since its invention in 1975. It produced first human genome and still remains the gold standard for genome sequencing. However, it cannot meet the needs for enormous genetic data gathering and process because of its relatively long sequencing time and high cost per sample. NGS which parallelise the sequencing process, thereby increasing processing speed at a reduced cost per sample emerged to compensate for the weakness of the previous method. Currently NGS is used in some medical areas and its use is being widened. NGS also plays an important role in a study of genetically heterogenous hearing diseases. NGS is expected to mark a significant milestone in genomic research filed in a near future.

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