MSV: a modular structural variant caller that reveals nested and complex rearrangements by unifying breakends inferred directly from reads
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....
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2023-07-01
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| Series: | Genome Biology |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13059-023-03009-5 |