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

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...

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Autores principales: Wold, Jana, Koepfli, Klaus‐Peter, Galla, Stephanie J., Eccles, David, Hogg, Carolyn J., Le Lec, Marissa F., Guhlin, Joseph, Santure, Anna W., Steeves, Tammy E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9290615/
https://www.ncbi.nlm.nih.gov/pubmed/34424587
http://dx.doi.org/10.1111/mec.16141
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author Wold, Jana
Koepfli, Klaus‐Peter
Galla, Stephanie J.
Eccles, David
Hogg, Carolyn J.
Le Lec, Marissa F.
Guhlin, Joseph
Santure, Anna W.
Steeves, Tammy E.
author_facet Wold, Jana
Koepfli, Klaus‐Peter
Galla, Stephanie J.
Eccles, David
Hogg, Carolyn J.
Le Lec, Marissa F.
Guhlin, Joseph
Santure, Anna W.
Steeves, Tammy E.
author_sort Wold, Jana
collection PubMed
description 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.
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spelling pubmed-92906152022-07-20 Expanding the conservation genomics toolbox: Incorporating structural variants to enhance genomic studies for species of conservation concern Wold, Jana Koepfli, Klaus‐Peter Galla, Stephanie J. Eccles, David Hogg, Carolyn J. Le Lec, Marissa F. Guhlin, Joseph Santure, Anna W. Steeves, Tammy E. Mol Ecol Methodological Approaches and Advances for Wgs 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. John Wiley and Sons Inc. 2021-09-12 2021-12 /pmc/articles/PMC9290615/ /pubmed/34424587 http://dx.doi.org/10.1111/mec.16141 Text en © 2021 The Authors. Molecular Ecology published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Methodological Approaches and Advances for Wgs
Wold, Jana
Koepfli, Klaus‐Peter
Galla, Stephanie J.
Eccles, David
Hogg, Carolyn J.
Le Lec, Marissa F.
Guhlin, Joseph
Santure, Anna W.
Steeves, Tammy E.
Expanding the conservation genomics toolbox: Incorporating structural variants to enhance genomic studies for species of conservation concern
title Expanding the conservation genomics toolbox: Incorporating structural variants to enhance genomic studies for species of conservation concern
title_full Expanding the conservation genomics toolbox: Incorporating structural variants to enhance genomic studies for species of conservation concern
title_fullStr Expanding the conservation genomics toolbox: Incorporating structural variants to enhance genomic studies for species of conservation concern
title_full_unstemmed Expanding the conservation genomics toolbox: Incorporating structural variants to enhance genomic studies for species of conservation concern
title_short Expanding the conservation genomics toolbox: Incorporating structural variants to enhance genomic studies for species of conservation concern
title_sort expanding the conservation genomics toolbox: incorporating structural variants to enhance genomic studies for species of conservation concern
topic Methodological Approaches and Advances for Wgs
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9290615/
https://www.ncbi.nlm.nih.gov/pubmed/34424587
http://dx.doi.org/10.1111/mec.16141
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