Yury A. Barbitoff

This study investigates pleiotropy across species and trait types, finding common features and selection pressures in highly pleiotropic genes.

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.

This study evaluates the impact of adapter trimming on germline variant calling accuracy using WGS and WES data, finding negligible effects in most cases and highlighting method-specific dependencies.

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

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.

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.

This study uses GWAS summary statistics to identify pleiotropic loci across the human phenome, revealing shared genetic components and novel genes involved in complex traits.

The paper was withdrawn by the authors due to lack of full consent, and is not intended for citation.