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Resolving somatic SVs via full-length sequence model-based local graph-genome optimization

2025-02-14

Abstract excerpt

Somatic structural variations (SVs) are critical genomic alterations in cancer genomes. Long-read sequencing (LRS) is theoretically optimal for detecting somatic SVs. However, influenced by reads-to-reference alignment errors, particularly in low-complexity or highly repetitive genomic intervals, current LRS-based somatic SV callers fail to accurately detect SVs. Moreover, the lack of comprehensive ground-truth da...

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Literature Corpus work
2f44f466-5f22-50ad-9402-3634cfd1a89e
DOI
10.1101/2025.02.11.636543
Open publication

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Resolving somatic SVs via full-length sequence model-based local graph-genome optimizationDOI 10.1101/2025.02.11.636543
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