Andrey Sergeyevich Glotov

Expanding the Russian allele frequency reference via cross-laboratory data integration: insights from 7,452 exome samples

The paper integrates exome data from 7,452 Russian samples to create a population-specific allele frequency reference, identifying rare variants and clusters within the Russian population.

Systematic benchmark of state-of-the-art variant calling pipelines identifies major factors affecting accuracy of coding sequence variant discovery

The paper benchmarks variant calling pipelines on gold standard datasets, finding DeepVariant performs best and highlighting the need for diverse reference genomes.

Harnessing population-specific protein truncating variants to improve the annotation of loss-of-function alleles

This study identifies population-specific protein-truncating variants and introduces LoFfeR, a tool that improves the annotation of low-confidence loss-of-function alleles by filtering more variants with the same false positive rate.

Systematic dissection of biases in whole-exome and whole-genome sequencing reveals major determinants of coding sequence coverage

This study systematically evaluates coverage biases in whole-exome and whole-genome sequencing, finding that some WES platforms outperform others and that WES can match WGS in variant discovery.