State Key Laboratory of Genetic Engineering, Center for Evolutionary Biology, Collaborative Innovation Center of Genetics and Development, School of Life Sciences, Fudan University, Shanghai 200438, China.
Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai 200031, China.
STAR Protoc. 2022 May 27;3(2):101440. doi: 10.1016/j.xpro.2022.101440. eCollection 2022 Jun 17.
With a growing number of available sequenced genomes, protocols for their applications to population genetics will benefit our understanding of the human genome. Here we detail analytic steps to apply an example reference genome to map and detect variants of short-read sequences from corresponding populations and to discover variants of disease-relevant genes. Using this protocol, we can improve variant discovery, better investigate population-specific genome properties, and evaluate the potential of sequenced genomes in medical studies. For complete details on the use and execution of this protocol, please refer to Lou et al. (2022).
随着越来越多的可测序基因组的出现，将这些基因组应用于群体遗传学的方案将有助于我们理解人类基因组。在这里，我们详细介绍了分析步骤，以应用示例参考基因组来映射和检测来自相应群体的短读序列变体，并发现与疾病相关基因的变体。使用此方案，我们可以改进变体发现，更好地研究特定于人群的基因组特性，并评估测序基因组在医学研究中的潜力。有关此方案使用和执行的完整详细信息，请参阅 Lou 等人。(2022 年)。
