Community Prevention Unit, Institute of Social and Preventive Medicine, Switzerland.
Best Pract Res Clin Endocrinol Metab. 2012 Apr;26(2):119-32. doi: 10.1016/j.beem.2011.09.001.
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.
在过去的 10 年中，人类遗传学取得了前所未有的进展。DNA 微阵列目前可以高水平地覆盖整个人类基因组进行筛选，我们现在正进入高通量测序的时代。这些显著的技术进步正在影响着医学研究的进行方式，并促进了我们对人类基因组结构和疾病生物学的理解。在这种情况下，临床医生了解现代遗传学的主要概念和局限性至关重要。本文将描述遗传学的关键概念，包括人类基因组中不同类型的遗传标记，综述当前检测 DNA 变异的方法，描述遗传学中主要的在线公共数据库，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，本文将重点介绍人类遗传变异分析。
