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Polina Geletskaia

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Open access Oct 2026

Whole-Genome Sequencing in Diagnostics of Unsolved Cases of Inherited Retinal Diseases

The study purpose was to assess the diagnostic value of whole-genome sequencing (WGS) in identifying candidate genetic variants in patients with inherited retinal diseases (IRDs). We investigated 107 unrelated Russian patients with retinal diseases who carried single pathogenic variants in any of nine common autosomal...

N. Ogorodova, A. Stepanova, Polina Geletskaia et al. · 0 citations

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