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Findzx: an automated pipeline for detecting and visualising sex chromosomes using whole-genome sequencing data
BACKGROUND: Sex chromosomes have evolved numerous times, as revealed by recent genomic studies. However, large gaps in our knowledge of sex chromosome diversity across the tree of life remain. Filling these gaps, through the study of novel species, is crucial for improved understanding of why and ho...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9044604/ https://www.ncbi.nlm.nih.gov/pubmed/35477344 http://dx.doi.org/10.1186/s12864-022-08432-9 |
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author | Sigeman, Hanna Sinclair, Bella Hansson, Bengt |
author_facet | Sigeman, Hanna Sinclair, Bella Hansson, Bengt |
author_sort | Sigeman, Hanna |
collection | PubMed |
description | BACKGROUND: Sex chromosomes have evolved numerous times, as revealed by recent genomic studies. However, large gaps in our knowledge of sex chromosome diversity across the tree of life remain. Filling these gaps, through the study of novel species, is crucial for improved understanding of why and how sex chromosomes evolve. Characterization of sex chromosomes in already well-studied organisms is also important to avoid misinterpretations of population genomic patterns caused by undetected sex chromosome variation. RESULTS: Here we present findZX, an automated Snakemake-based computational pipeline for detecting and visualizing sex chromosomes through differences in genome coverage and heterozygosity between any number of males and females. A main feature of the pipeline is the option to perform a genome coordinate liftover to a reference genome of another species. This allows users to inspect sex-linked regions over larger contiguous chromosome regions, while also providing important between-species synteny information. To demonstrate its effectiveness, we applied findZX to publicly available genomic data from species belonging to widely different taxonomic groups (mammals, birds, reptiles, and fish), with sex chromosome systems of different ages, sizes, and levels of differentiation. We also demonstrate that the liftover method is robust over large phylogenetic distances (> 80 million years of evolution). CONCLUSIONS: With findZX we provide an easy-to-use and highly effective tool for identification of sex chromosomes. The pipeline is compatible with both Linux and MacOS systems, and scalable to suit different computational platforms. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12864-022-08432-9. |
format | Online Article Text |
id | pubmed-9044604 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-90446042022-04-28 Findzx: an automated pipeline for detecting and visualising sex chromosomes using whole-genome sequencing data Sigeman, Hanna Sinclair, Bella Hansson, Bengt BMC Genomics Software BACKGROUND: Sex chromosomes have evolved numerous times, as revealed by recent genomic studies. However, large gaps in our knowledge of sex chromosome diversity across the tree of life remain. Filling these gaps, through the study of novel species, is crucial for improved understanding of why and how sex chromosomes evolve. Characterization of sex chromosomes in already well-studied organisms is also important to avoid misinterpretations of population genomic patterns caused by undetected sex chromosome variation. RESULTS: Here we present findZX, an automated Snakemake-based computational pipeline for detecting and visualizing sex chromosomes through differences in genome coverage and heterozygosity between any number of males and females. A main feature of the pipeline is the option to perform a genome coordinate liftover to a reference genome of another species. This allows users to inspect sex-linked regions over larger contiguous chromosome regions, while also providing important between-species synteny information. To demonstrate its effectiveness, we applied findZX to publicly available genomic data from species belonging to widely different taxonomic groups (mammals, birds, reptiles, and fish), with sex chromosome systems of different ages, sizes, and levels of differentiation. We also demonstrate that the liftover method is robust over large phylogenetic distances (> 80 million years of evolution). CONCLUSIONS: With findZX we provide an easy-to-use and highly effective tool for identification of sex chromosomes. The pipeline is compatible with both Linux and MacOS systems, and scalable to suit different computational platforms. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12864-022-08432-9. BioMed Central 2022-04-27 /pmc/articles/PMC9044604/ /pubmed/35477344 http://dx.doi.org/10.1186/s12864-022-08432-9 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Software Sigeman, Hanna Sinclair, Bella Hansson, Bengt Findzx: an automated pipeline for detecting and visualising sex chromosomes using whole-genome sequencing data |
title | Findzx: an automated pipeline for detecting and visualising sex chromosomes using whole-genome sequencing data |
title_full | Findzx: an automated pipeline for detecting and visualising sex chromosomes using whole-genome sequencing data |
title_fullStr | Findzx: an automated pipeline for detecting and visualising sex chromosomes using whole-genome sequencing data |
title_full_unstemmed | Findzx: an automated pipeline for detecting and visualising sex chromosomes using whole-genome sequencing data |
title_short | Findzx: an automated pipeline for detecting and visualising sex chromosomes using whole-genome sequencing data |
title_sort | findzx: an automated pipeline for detecting and visualising sex chromosomes using whole-genome sequencing data |
topic | Software |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9044604/ https://www.ncbi.nlm.nih.gov/pubmed/35477344 http://dx.doi.org/10.1186/s12864-022-08432-9 |
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