Genetics for clinicians: From candidate genes to whole genome scans (technological advances)
Genetics for clinicians: From candidate genes to whole genome scans (technological advances)
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DOI：
10.1016/j.beem.2011.09.001
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发表时间：
2012-04-01
影响因子：
7.4
通讯作者：
Bochud, Murielle
中科院分区：
文献类型：
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作者：
Bochud, Murielle
在过去的十年里，人类遗传学以前所未有的速度取得了进步。 DNA微阵列目前可以高覆盖度地筛选整个人类基因组，我们现在正在进入高通量测序时代。这些显着的技术进步正在影响医学研究的进行方式，并增进了我们对人类基因组结构以及疾病生物学的理解。在这种背景下，临床医生了解现代遗传学的主要概念和局限性至关重要。本综述将描述遗传学中的关键概念，包括人类基因组中不同类型的遗传标记，回顾当前检测 DNA 变异的方法，描述遗传学中的主要在线公共数据库，解释统计遗传学中的关键概念，最后介绍临床和流行病学研究中常用的研究设计。因此，本综述将集中于人类遗传变异分析。 (C) 2011 Elsevier Ltd. 保留所有权利。
Human genetics has progressed at an unprecedented pace during the past 10 years. DNA microarrays currently allow screening of the entire human genome with high level of coverage and we are now entering the era of high-throughput sequencing. These remarkable technical advances are influencing the way medical research is conducted and have boosted our understanding of the structure of the human genome as well as of disease biology. In this context, it is crucial for clinicians to understand the main concepts and limitations of modern genetics. This review will describe key concepts in genetics, including the different types of genetic markers in the human genome, review current methods to detect DNA variation, describe major online public databases in genetics, explain key concepts in statistical genetics and finally present commonly used study designs in clinical and epidemiological research. This review will therefore concentrate on human genetic variation analysis. (C) 2011 Elsevier Ltd. All rights reserved.