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Sponsored AI Networking Cookbook: Practical recipes for AI-assisted network automation and development AI Networking Cookbook: Practical recipes for AI-assisted network automation and development

Author

K. Severinov

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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
Open access Sep 2026

Genetic Heterogeneity of Inborn Errors of Immunity Revealed by Whole-Genome Sequencing: Insights from a Russian Patient Cohort

Identifying genetic cause(s) is a key step for management and treatment of patients with inborn errors of immunity (IEI). Here, in an observational cross-sectional genomic study, we analyzed whole-genome sequencing (WGS) data of 72 IEI patients from Saint Petersburg and Northwestern Russia: 42 patients with common vari...

Yunna S. Petrusenko, T. Savin, A. Sedykh et al. · 0 citations
Open access Aug 2026

Analysis of APC promoter 1B deletions in Russian families with familial adenomatous polyposis

The APC 1B promoter deletions analyzed in this study had arisen independently and there is thus no evidence of a founder effect and WGS did not provide an added diagnostic benefit to MLPA aside from precisely determining the deletion breakpoints.

A. S. Tsukanov, Sergey I. Achkasov, A. Loginova et al. · 0 citations

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