The Power of Pangenome Assemblies in Ruminants
Journal of animal science/Journal of animal science and ASAS reference compendium(2023)
摘要
High quality reference genomes are the bases of all genomic research and they have facilitated a wealth of discoveries and research tools for the improvement of livestock species. These works have enabled major advances in the fields of animal science and genetics and impacted livestock production and associated industries for the benefit of society. However, because a single reference genome fails to represent all of the genetic material present across populations, it inherently limits the ability to comprehensively evaluate all genomic variants within a species. A complete understanding of how small and large genomic variants, from single nucleotide polymorphisms (SNP) to larger structural variations (SV) including insertions/deletions (InDels) and copy number variation (CNVs), have been selected for over time for specific environments and phenotypes, remains elusive. To address this, it is necessary to generate a catalog of genomic variants in populations subjected to natural or artificial selection pressures and evaluate their relationship among phenotypic classes. The pangenome approach is a means to comprehensively identify and catalog genomic variation and representation that will make more suitable reference for mapping population sequence data for variant detection and frequency evaluation. The goal of the most pangenome projects is to provide genomic resources to represent the immense genetic diversity of this species more completely. This will increase our understanding of genetic variation and its role in dictating different phenomes, empowering scientists to predict the physiological outcomes more effectively from genomic variation towards the improvement of breeding strategies. These pangenomes can then be used to discover the underlying mechanism of biological traits and inform future breeding strategies and support sustainable production of this global source of food and fiber.
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关键词
pangenome,reference genome
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