Article

Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach

2025-04-03

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold>: Inherited retinal dystrophies (IRDs) are genetically heterogeneous group of conditions, with approximately 40% of cases remaining unresolved after initial genetic testing. This study aimed to assess the impact of a personalised genomic approach integrating whole-exome sequencing (WES) reanalysis, whole-genome sequencing (WGS), customised gene panels and function...

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Literature Corpus work: e213927d-25c6-52ee-8496-6bba320e3242
DOI: 10.21203/rs.3.rs-6196723/v1

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