Article

CHALLENGER: Detecting Copy Number Variants in Challenging Regions Using Whole Genome Sequencing Data

2025-11-26

Abstract excerpt

Copy number variation (CNV) detection remains a major challenge in whole-genome sequencing (WGS) data, particularly within repetitive, duplicated, and camouflaged genomic regions where short-read sequencing (srWGS) often fails to produce confident alignments. Although long-read WGS (lrWGS) substantially improves structural variant resolution, its high cost limits widespread adoption, especially in clinical setting...

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Literature Corpus work: 42b0bf90-4677-50ca-a66b-524c6e79f5e9
DOI: 10.1101/2025.11.23.690083

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