Olesya V. Sagaydak

HLA alleles and haplotype distribution across Russian population groups

This study reports HLA allele and haplotype frequencies across 14 Russian ethnic groups using whole genome sequencing data, highlighting differences in risk alleles for type 1 diabetes and improving HLA frequency coverage in eastern Europe and northern Asia.

Systematic analysis of insertions signature in gnomAD revealed large set of novel processed pseudogenes

The paper identifies novel non-reference processed pseudogenes by analyzing insertion artifacts in gnomAD data, improving variant interpretation.

Sanger validation of WGS variants - when to?

This study evaluates concordance between whole genome sequencing variants and Sanger validation to establish thresholds for high-quality variant filtering.