全基因组测序的进展:方法、工具及其在人口基因组学中的应用。

IF 5.6 2区 生物学 International Journal of Molecular Sciences Pub Date : 2025-01-04 DOI:10.3390/ijms26010372
Ying Lu, Mengfei Li, Zhendong Gao, Hongming Ma, Yuqing Chong, Jieyun Hong, Jiao Wu, Dongwang Wu, Dongmei Xi, Weidong Deng
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引用次数: 0

摘要

随着高通量测序技术的快速发展,全基因组测序(WGS)已成为研究遗传变异和群体结构的重要工具。利用种群基因组学工具来分析重测序数据,可以有效地整合选择信号与种群历史,精确估计有效种群规模,历史种群趋势和结构见解,以及识别特定的遗传位点和变异。本文综述了目前全基因组测序技术,详细介绍了主要的研究方法、相关软件以及它们在群体基因组学中的优势和局限性。目标是研究重测序技术在这一领域的应用和进展,并考虑未来的发展,包括深度学习模型和机器学习算法,它们有望增强分析方法并推动人口基因组学的进一步发展。
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Advances in Whole Genome Sequencing: Methods, Tools, and Applications in Population Genomics.

With the rapid advancement of high-throughput sequencing technologies, whole genome sequencing (WGS) has emerged as a crucial tool for studying genetic variation and population structure. Utilizing population genomics tools to analyze resequencing data allows for the effective integration of selection signals with population history, precise estimation of effective population size, historical population trends, and structural insights, along with the identification of specific genetic loci and variations. This paper reviews current whole genome sequencing technologies, detailing primary research methods, relevant software, and their advantages and limitations within population genomics. The goal is to examine the application and progress of resequencing technologies in this field and to consider future developments, including deep learning models and machine learning algorithms, which promise to enhance analytical methodologies and drive further advancements in population genomics.

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来源期刊
自引率
10.70%
发文量
13472
审稿时长
1.7 months
期刊介绍: The International Journal of Molecular Sciences (ISSN 1422-0067) provides an advanced forum for chemistry, molecular physics (chemical physics and physical chemistry) and molecular biology. It publishes research articles, reviews, communications and short notes. Our aim is to encourage scientists to publish their theoretical and experimental results in as much detail as possible. Therefore, there is no restriction on the length of the papers or the number of electronics supplementary files. For articles with computational results, the full experimental details must be provided so that the results can be reproduced. Electronic files regarding the full details of the calculation and experimental procedure, if unable to be published in a normal way, can be deposited as supplementary material (including animated pictures, videos, interactive Excel sheets, software executables and others).
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