Article

Diagnostic impact of secondary findings from whole genome or whole exome sequencing in patients diagnosed with genetic eye disorders

2025-03-05

Abstract excerpt

<h4>Purpose</h4> Whole exome or genome sequencing (WES and WGS, respectively) can be valuable in identifying the molecular basis of inherited retinal disorders (IRD), particularly when panel-based testing yields negative or inconclusive results. However, WES or WGS may reveal secondary findings (SF) associated with severe diseases such as cancer, neurodegenerative and cardiovascular conditions. The American Societ...

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Literature Corpus work: c057e370-78b9-569f-b778-2e9361404e59
DOI: 10.1101/2025.03.03.25322102

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