Article

Closing the diagnostic gap in developmental disorders through comprehensive long-read sequencing

2026-04-27

Abstract excerpt

<title>Abstract</title> <p> <italic>Purpose:</italic> A substantial fraction of structural variants (SVs) and complex genomic regions escapes detection by short-read sequencing, while clinical epigenetic analyses remain restricted to a small number of targeted assays. Long-read sequencing (LRS) technologies represent a promising approach to reduce the diagnostic gap in genetic testing for developmental disorder...

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Literature Corpus work: b6161d8a-8bd8-5453-981b-d6ec867eae60
DOI: 10.21203/rs.3.rs-9108777/v1

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