Article
Accurate and Robust Characterization of Structural Variants at Low Coverages with ARCLID
2025-10-13
Abstract excerpt
Structural variants (SVs) shape genome diversity and underlie human diseases, yet accurate detection remains difficult, especially at low sequencing coverages. Most existing callers are optimized for deep sequencing and lose sensitivity as coverage falls, limiting their use in studies that sequence genomes at shallow depth. We present ARCLID, a deep learning-based SV caller that reframes SV detection as an object...
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Identifiers and source
- Literature Corpus work
- 6fd39962-0f5f-5c7e-b21f-c4af68e2fbd6
- DOI
- 10.1101/2025.10.10.681591
