Article

Diagnostic Discovery Of Structural Variants causing Foveal Hypoplasia Using SVRare and Long Read Nanopore Sequencing

2026-03-15

Abstract excerpt

<title>Abstract</title> <p> Advances in DNA sequencing technology are increasing the rate of molecular diagnosis for patients and families with inherited Mendelian diseases. However, some patients remain unsolved following standard-of-care testing (typically either exome or genome sequencing), with structural variants (SVs) likely to account for a significant proportion of these missed diagnoses. We re-analysed...

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Literature Corpus work: f1252371-88c7-5f61-bed0-f2858100ae40
DOI: 10.21203/rs.3.rs-8969358/v1

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