Alexandra M. Weber

This study provides genome-wide data for the Ukrainian population, identifying novel genetic variants and highlighting its unique genetic diversity.

The paper compares structural variant detection using short-read and long-read sequencing in three trios, showing lrWGS finds more SVs but srWGS has high concordance in non-repetitive regions.

VaPoR validates structural variations using long-read sequencing data with high accuracy and efficiency, outperforming manual methods.