О. П. Рыжкова

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

This paper introduces a method combining exome sequencing and chromosome conformation capture to detect both SNVs and SVs, demonstrating its effectiveness in identifying causative variants in rare disorders.

This paper introduces an S1 nuclease-based Hi-C method for chromatin conformation capture, offering improved chromatin fragmentation and library preparation compared to DNase I Hi-C.