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The promise and challenges of structural variant discovery: A conservation case study in the critically endangered kākāpō (Strigops habroptilus)
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  • Jana Wold,
  • Joseph Guhlin,
  • Peter Dearden,
  • Anna Santure,
  • Tammy Steeves
Jana Wold
University of Canterbury

Corresponding Author:[email protected]

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Joseph Guhlin
University of Otago
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Peter Dearden
University of Otago
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Anna Santure
University of Auckland
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Tammy Steeves
University of Canterbury
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Abstract

There is growing interest in the role of structural variants (SVs) as drivers of local adaptation and speciation. From a conservation genomics perspective, the characterisation of SVs in threatened species provides an exciting opportunity to complement existing approaches that use single nucleotide polymorphisms (SNPs) to detect adaptive variation, identify conservation units, guide pairing decisions and inform conservation translocations. However, little is known about whole-genome SV frequency and size distributions, especially for small populations. To explore the impacts that SV discovery and genotyping strategies may have on characterisation of SV diversity in non-model organisms, we explore a near whole-species resequence dataset, and long-read sequence data for a subset of highly represented individuals in the critically endangered kākāpō (Strigops habroptilus). We demonstrate that even when using a highly contiguous reference genome, different discovery and genotyping strategies can significantly impact the type, size and location of SVs characterised, which indicates researchers should exercise caution when drawing conclusions at the individual-scale. Further, we find that genotyping SVs discovered with long-read data at the population-scale with short-read data remains challenging. Despite this, we found that all six strategies used to characterise SVs in kākāpō reflected similar trends at the population-scale including the identification of population structure. We are optimistic that increased accessibility to long-read sequencing and advancements in bioinformatic approaches (e.g., multi-reference approaches like genome graphs) will alleviate challenges associated with resolving SV characteristics below the species level and facilitate the characterisation of population- and individual-level SVs in threatened species around the globe.
28 Nov 2022Submitted to Molecular Ecology Resources
20 Dec 2022Submission Checks Completed
20 Dec 2022Assigned to Editor
20 Dec 2022Review(s) Completed, Editorial Evaluation Pending
03 Jan 2023Reviewer(s) Assigned
26 Jan 2023Editorial Decision: Revise Minor
24 Feb 20231st Revision Received
25 Feb 2023Submission Checks Completed
25 Feb 2023Assigned to Editor
25 Feb 2023Review(s) Completed, Editorial Evaluation Pending
09 Mar 2023Editorial Decision: Accept