Structural variants (SVs) are large rearrangements (>50 bp) within the genome that impact gene function and the content and structure of chromosomes. As a result, SVs are a significant source of functional genomic variation, that is, variation at genomic regions underpinning phenotype differences, that can have large effects on individual and population fitness. While there are increasing opportunities to investigate functional genomic variation in threatened species via single nucleotide polymorphism (SNP) data sets, SVs remain understudied despite their potential influence on fitness traits of conservation interest. In this future-focused Opinion, we contend that characterizing SVs offers the conservation genomics community an exciting opportunity to complement SNP-based approaches to enhance species recovery. We also leverage the existing literature–predominantly in human health, agriculture and ecoevolutionary biology–to identify approaches for readily characterizing SVs and consider how integrating these into the conservation genomics toolbox may transform the way we manage some of the world's most threatened species.

中文翻译：

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扩展保护基因组学工具箱：整合结构变异以加强对保护关注物种的基因组研究

结构变异 (SVs) 是基因组内影响基因功能以及染色体内容和结构的大型重排 (>50 bp)。因此，SV 是功能基因组变异的重要来源，即支持表型差异的基因组区域的变异，可能对个体和群体适应度产生很大影响。虽然通过单核苷酸多态性 (SNP) 数据集研究受威胁物种的功能基因组变异的机会越来越多，但尽管 SVs 对保护兴趣的适应性特征具有潜在影响，但它们仍然未被充分研究。在这个着眼于未来的意见中，我们认为表征 SV 为保护基因组学界提供了一个令人兴奋的机会，以补充基于 SNP 的方法以增强物种恢复。