Let's show Structural Variations

Genomes can be subject to Structural Variations (SVs): rearrangements of more than 50kb of a sequence of nucleotides. These variations can have various effects depending on where they take place in a genome (for example within a gene or a control region) and influence the phenotypes. Comparing these...

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Bibliographic Details
Main Authors: Durant, Éloi, Conte, Matthieu, Sabot, François, Rouard, Mathieu
Format: Poster
Language:Inglés
Published: 2023
Subjects:
Online Access:https://hdl.handle.net/10568/130323
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author Durant, Éloi
Conte, Matthieu
Sabot, François
Rouard, Mathieu
author_browse Conte, Matthieu
Durant, Éloi
Rouard, Mathieu
Sabot, François
author_facet Durant, Éloi
Conte, Matthieu
Sabot, François
Rouard, Mathieu
author_sort Durant, Éloi
collection Repository of Agricultural Research Outputs (CGSpace)
description Genomes can be subject to Structural Variations (SVs): rearrangements of more than 50kb of a sequence of nucleotides. These variations can have various effects depending on where they take place in a genome (for example within a gene or a control region) and influence the phenotypes. Comparing these SVs between genomes enables scientists to better understand the links between the rearrangements and their effects. However there are few tools that offer a visual exploration of these SVs, as most of them focus only on the sequences that are common between two genomes. We propose a visual representation of these SVs as a glyphs integrated within a matrix-like display, based on the divergences between to path / genomes within pangenome graphs. One genome acts as a reference coordinate system (the ‘pivot genome’), and all other genomes are then compared directly to it using the glyphs to highlight the differences. In order to create the most intuitive (therefore easiest to understand) glyphs for each type of SVs, we encourage the VIZBI community to answer a 1-minute survey and discover our proposed glyphs.
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spelling CGSpace1303232025-11-05T11:50:35Z Let's show Structural Variations Durant, Éloi Conte, Matthieu Sabot, François Rouard, Mathieu genomics genomes data graphics bioinformatics Genomes can be subject to Structural Variations (SVs): rearrangements of more than 50kb of a sequence of nucleotides. These variations can have various effects depending on where they take place in a genome (for example within a gene or a control region) and influence the phenotypes. Comparing these SVs between genomes enables scientists to better understand the links between the rearrangements and their effects. However there are few tools that offer a visual exploration of these SVs, as most of them focus only on the sequences that are common between two genomes. We propose a visual representation of these SVs as a glyphs integrated within a matrix-like display, based on the divergences between to path / genomes within pangenome graphs. One genome acts as a reference coordinate system (the ‘pivot genome’), and all other genomes are then compared directly to it using the glyphs to highlight the differences. In order to create the most intuitive (therefore easiest to understand) glyphs for each type of SVs, we encourage the VIZBI community to answer a 1-minute survey and discover our proposed glyphs. 2023-05 2023-05-11T08:12:23Z 2023-05-11T08:12:23Z Poster https://hdl.handle.net/10568/130323 en Open Access application/pdf Durant, E.; Conte, M.; Sabot, F.; Rouard, M. (2023) Let's show Structural Variations. 1 p.
spellingShingle genomics
genomes
data
graphics
bioinformatics
Durant, Éloi
Conte, Matthieu
Sabot, François
Rouard, Mathieu
Let's show Structural Variations
title Let's show Structural Variations
title_full Let's show Structural Variations
title_fullStr Let's show Structural Variations
title_full_unstemmed Let's show Structural Variations
title_short Let's show Structural Variations
title_sort let s show structural variations
topic genomics
genomes
data
graphics
bioinformatics
url https://hdl.handle.net/10568/130323
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