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Pathogenicity Reassessment and Novel Variant Discovery in Inherited Retinal Disease through Population-Scale Genomics in the United Arab Emirates

2025-10-19

Abstract excerpt

<h4>Background</h4> Pathogenicity classifications for rare disease variants are largely derived from clinically ascertained cohorts, in which penetrance is often assumed to be near-complete. As genomic sequencing expands into population-scale screening, particularly in underrepresented populations, both the penetrance of known variants and the relevance of novel or population-enriched variants require systematic...

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Literature Corpus work
70c98cad-f2d6-5fe4-9e16-c16e9f6305fa
DOI
10.1101/2025.10.14.25337784
Open publication

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