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...

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Detalles Bibliográficos
Autores principales: Schmidt, Markus, Kutzner, Arne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Method
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

Internet

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

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