Next-generation sequencing technologies and applications for human genetic history and forensics.
Next-generation sequencing technologies and applications for human genetic history and forensics.
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DOI：
10.1186/2041-2223-2-23
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发表时间：
2011-11-24
期刊：
影响因子：
--
通讯作者：
Syvänen AC
中科院分区：
文献类型：
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作者：
Berglund EC;Kiialainen A;Syvänen AC
近年来，测序技术发展迅速，在生物学和医学领域的应用越来越多。在这里，我们回顾了用于测序的 DNA 模板制备的关键技术问题、下一代测序系统的生化反应原理和检测格式、成像和碱基调用方法、质量控制以及序列比对、变体调用和组装的生物信息学方法。我们还讨论了新测序技术给人类群体遗传学、人类遗传史和法医遗传学领域带来的一些最重要的进步。
Rapid advances in the development of sequencing technologies in recent years have enabled an increasing number of applications in biology and medicine. Here, we review key technical aspects of the preparation of DNA templates for sequencing, the biochemical reaction principles and assay formats underlying next-generation sequencing systems, methods for imaging and base calling, quality control, and bioinformatic approaches for sequence alignment, variant calling and assembly. We also discuss some of the most important advances that the new sequencing technologies have brought to the fields of human population genetics, human genetic history and forensic genetics.