Article

Current Structural Variant Calling Biases Compromise Clinical Genome Diagnostics

2026-04-16

Abstract excerpt

<title>Abstract</title> <p>Structural variants (SVs) account for a substantial proportion of pathogenic mutations in rare diseases, yet their detection remains challenging in clinically relevant coding regions. We systematically benchmarked SV detection across Illumina WGS, Illumina WES, ONT WGS, and PacBio WGS using the HG002 GIAB truth set on GRCh37 and GRCh38. Performance was assessed within three nested inter...

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Literature Corpus work: 12978589-3ceb-5788-b7fd-79bc4ce0ba44
DOI: 10.21203/rs.3.rs-9179453/v1

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