Article

Systematic assessment of the contribution of structural variants to inherited retinal diseases

2023-01-03

Abstract excerpt

<h4>ABSTRACT</h4> Despite increasing success in determining genetic diagnosis for patients with inherited retinal diseases (IRDs), mutations in about 30% of the IRD cases remain unclear or unsettled after targeted gene panel or whole exome sequencing. In this study, we aimed to investigate the contributions of structural variants (SVs) to settling the molecular diagnosis of IRD with whole-genome sequencing (WGS)....

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Literature Corpus work: 7ce27268-ef8c-5d13-9ef5-0588b0841b37
DOI: 10.1101/2023.01.02.522522

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