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MSV: a modular structural variant caller that reveals nested and complex rearrangements by unifying breakends inferred directly from reads
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 contex...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10351204/ https://www.ncbi.nlm.nih.gov/pubmed/37461107 http://dx.doi.org/10.1186/s13059-023-03009-5 |