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Updated: Jul 23, 2025

Following the Dynamics of Structural Variants in Experimentally Evolved Populations
Published on: February 3, 2023
MSV: a modular structural variant caller that reveals nested and complex rearrangements by unifying breakends
Markus Schmidt1, Arne Kutzner2
1Biomedical Center Munich, Department of Physiological Chemistry, Ludwig-Maximilians-Universität, Großhaderner Str. 9, 82152, Planegg-Martinsried, Germany.
Abstract:
Structural variant (SV) calling belongs to the standard tools of modern bioinformatics for identifying and describing alterations in genomes. Initially, this work presents several complex genomic rearrangements that reveal conceptual ambiguities inherent to the representation via basic SV. We contextualize these ambiguities theoretically as well as practically and propose a graph-based approach for resolving them. For various yeast genomes, we practically compute adjacency matrices of our graph model and demonstrate that they provide highly accurate descriptions of one genome in terms of another. An open-source prototype implementation of our approach is available under the MIT license at https://github.com/ITBE-Lab/MA .
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