Article

SDrecall: A Scalable Approach for Sensitive Variant Detection in Segmental Duplications

2024-11-26

Abstract excerpt

<title>Abstract</title> <p>Next-generation sequencing is a formidable tool for molecular diagnosis. However, variant calling in segmental duplication regions remains a challenge for short-read sequencing, and no effective tools are available for these regions. We introduce SDrecall, a scalable method designed specifically for sensitive variant detection in segmental duplications using short reads. To enhance sens...

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Literature Corpus work: c9a9d9c5-eefc-5e4b-800f-e93a6f3474bc
DOI: 10.21203/rs.3.rs-5406065/v1

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