Article

Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discovery

2025-09-23

Abstract excerpt

<title>Abstract</title> <p>Structural variants (SVs), including duplications, deletions, inversions, translocations, and insertions, contribute to human phenotypic diversity but are often challenging to identify due to their size variability and complex configurations. Optical genome mapping (OGM) uses ultra-high molecular weight DNA (> 150 kb) fluorescently labeled at a specific six-nucleotide sequence, enabling...

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Literature Corpus work: 7cf375f5-ddb7-59d2-bf9b-788f0b1066f3
DOI: 10.21203/rs.3.rs-7371701/v1

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