Wang Yung-Chun, Wu Yuchang, Choi Julie, Allington Garrett, Zhao Shujuan, Khanfar Mariam, Yang Kuangying, Fu Po-Ying, Wrubel Max, Yu Xiaobing, Mekbib Kedous Y, Ocken Jack, Smith Hannah, Shohfi John, Kahle Kristopher T, Lu Qiongshi, Jin Sheng Chih
Department of Genetics, School of Medicine, Washington University, St. Louis, MO 63110, USA.
Department of Biostatistics & Medical Informatics, University of Wisconsin-Madison, Madison, WI 53706, USA.
J Pers Med. 2022 Jan 27;12(2):175. doi: 10.3390/jpm12020175.
Rapid methodological advances in statistical and computational genomics have enabled researchers to better identify and interpret both rare and common variants responsible for complex human diseases. As we continue to see an expansion of these advances in the field, it is now imperative for researchers to understand the resources and methodologies available for various data types and study designs. In this review, we provide an overview of recent methods for identifying rare and common variants and understanding their roles in disease etiology. Additionally, we discuss the strategy, challenge, and promise of gene therapy. As computational and statistical approaches continue to improve, we will have an opportunity to translate human genetic findings into personalized health care.
统计和计算基因组学在方法学上的快速进展，使研究人员能够更好地识别和解释导致复杂人类疾病的罕见和常见变异。随着该领域这些进展的不断扩展，研究人员现在必须了解适用于各种数据类型和研究设计的资源和方法。在本综述中，我们概述了识别罕见和常见变异以及了解它们在疾病病因学中作用的最新方法。此外，我们还讨论了基因治疗的策略、挑战和前景。随着计算和统计方法的不断改进，我们将有机会将人类遗传学研究成果转化为个性化医疗保健。
