Article

FocalSV: target region-based structural variant assembly and refinement using single-molecule long read sequencing data

2024-11-21

Abstract excerpt

Structural variants (SVs) play a critical role in shaping the diversity of the human genome and their detection holds significant potential for advancing precision medicine. Despite notable progress in single-molecule long-read sequencing technologies, accurately identifying SV breakpoints and resolving their sequence remains a major challenge. Current alignment-based tools often struggle with precise breakpoint d...

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Literature Corpus work: 382b93d1-21c8-51b9-8799-fa4c8cea94bc
DOI: 10.1101/2024.11.21.624735

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