Expanding the conservation genomics toolbox: Incorporating structural variants to enhance genomic studies for species of conservation concern

Mol Ecol. 2021 Dec;30(23):5949-5965. doi: 10.1111/mec.16141. Epub 2021 Sep 12.

Abstract

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.

Keywords: conservation genetics; fitness traits; functional diversity; genome-wide diversity; pangenomes; structural variation.

Publication types

  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Animals
  • Endangered Species
  • Genome*
  • Genomics*
  • Humans
  • Phenotype