Mary V. Woroncow

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.

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

The paper introduces HLAchecker, a pipeline to identify new HLA alleles from WGS data by comparing predicted HLA types with raw data, and validates 17 potential new alleles.

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