Article

Long-Read Sequencing for Structural Variant Detection: A Scoping Review of Tools, Benchmarking Evidence, and Clinical Applications

2026-06-12

Abstract excerpt

<title>Abstract</title> <p>Background Structural variants, including deletions, insertions, duplications, inversions, and translocations exceeding 50 base pairs, which collectively affect more nucleotides than single-nucleotide variants and contribute substantially to human disease [1,7]. Short-read whole-genome sequencing fails to genotype 35% of deletions and 47% of insertions within tandem repeats, a limitati...

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Literature Corpus work: 88c96364-7532-5d1c-adb4-42fa4dd00f68
DOI: 10.21203/rs.3.rs-9959688/v1

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