Illya Yakymenko

The paper characterizes common human polymorphic inversions and their functional effects, showing they are enriched in functional variants and associated with phenotypic traits.

This study evaluates inversion imputation accuracy across five algorithms using whole genome sequencing and simulated data, finding that 40.4-75.5% of inversions can be imputed accurately in three human populations.

The paper identifies 612 human inversion variants using ultra-long read sequencing and develops a bioinformatic tool to genotype them across 54 individuals.