Ruperao Pradeep, Rangan Parimalan, Shah Trushar, Sharma Vinay, Rathore Abhishek, Mayes Sean, Pandey Manish K
Center of Excellence in Genomics and Systems Biology (CEGSB) and Center for Pre-Breeding Research (CPBR), International Crops Research Institute for the Semi-Arid Tropics (ICRISAT), Hyderabad, India.
ICAR-National Bureau of Plant Genetic Resources (NBPGR), New Delhi, India; Queensland Alliance for Agriculture and Food Innovation, The University of Queensland, St Lucia, Australia.
J Adv Res. 2025 Jan 31. doi: 10.1016/j.jare.2025.01.052.
The development of pangenomes has revolutionized genomic studies by capturing the complete genetic diversity within a species. Pangenome assembly integrates data from multiple individuals to construct a comprehensive genomic landscape, revealing both core and accessory genomic elements. This approach enables the identification of novel genes, structural variations, and gene presence-absence variations, providing insights into species evolution, adaptation, and trait variation. Representing pangenomes requires innovative visualization formats that effectively convey the complex genomic structures and variations.
This review delves into contemporary methodologies and recent advancements in constructing pangenomes, particularly in plant genomes. It examines the structure of pangenome representation, including format comparison, conversion, visualization techniques, and their implications for enhancing crop improvement strategies.
Earlier comparative studies have illuminated novel gene sequences, copy number variations, and presence-absence variations across diverse crop species. The concept of a pan-genome, which captures multiple genetic variations from a broad spectrum of genotypes, offers a holistic perspective of a species' genetic makeup. However, constructing a pan-genome for plants with larger genomes poses challenges, including managing vast genome sequence data and comprehending the genetic variations within the germplasm. To address these challenges, researchers have explored cost-effective alternatives to encapsulate species diversity in a single assembly known as a pangenome. This involves reducing the volume of genome sequences while focusing on genetic variations. With the growing prominence of the pan-genome concept in plant genomics, several software tools have emerged to facilitate pangenome construction. This review sheds light on developing and utilizing software tools tailored for constructing pan-genomes in plants. It also discusses representation formats suitable for downstream analyses, offering valuable insights into the genetic landscape and evolutionary dynamics of plant species. In summary, this review underscores the significance of pan-genome construction and representation formats in resolving the genetic architecture of plants, particularly those with complex genomes. It provides a comprehensive overview of recent advancements, aiding in exploring and understanding plant genetic diversity.
泛基因组的发展通过捕获一个物种内的完整遗传多样性,彻底改变了基因组研究。泛基因组组装整合来自多个个体的数据,以构建一个全面的基因组图谱,揭示核心和辅助基因组元件。这种方法能够识别新基因、结构变异和基因存在-缺失变异,为物种进化、适应性和性状变异提供见解。表示泛基因组需要创新的可视化格式,以有效地传达复杂的基因组结构和变异。
本综述深入探讨构建泛基因组的当代方法和最新进展,特别是在植物基因组方面。它研究了泛基因组表示的结构,包括格式比较、转换、可视化技术及其对加强作物改良策略的影响。
早期的比较研究揭示了不同作物物种中的新基因序列、拷贝数变异和存在-缺失变异。泛基因组的概念从广泛的基因型中捕获多种遗传变异,提供了一个物种遗传组成的整体视角。然而,为具有更大基因组的植物构建泛基因组面临挑战,包括管理庞大的基因组序列数据和理解种质内的遗传变异。为应对这些挑战,研究人员探索了经济高效的替代方法,以在称为泛基因组的单个组装中封装物种多样性。这涉及减少基因组序列的数量,同时关注遗传变异。随着泛基因组概念在植物基因组学中日益突出,出现了几种软件工具来促进泛基因组的构建。本综述阐明了为构建植物泛基因组而开发和使用的软件工具。它还讨论了适用于下游分析的表示格式,为植物物种的遗传图谱和进化动态提供了有价值的见解。总之,本综述强调了泛基因组构建和表示格式在解析植物,特别是具有复杂基因组的植物的遗传结构方面的重要性。它全面概述了最新进展,有助于探索和理解植物遗传多样性。