Elena V. Grigor’eva

A novel approach for simultaneous detection of structural and single-nucleotide variants based on a combination of chromosome conformation capture and exome sequencing

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.

Generation and characterization of iPSCs from human embryonic dermal fibroblasts of a healthy donor from Siberian population

This study generates and characterizes iPSCs from human embryonic dermal fibroblasts, confirming their pluripotency and potential for differentiation into three germ layers.