Yurii S. Aulchenko

The Human Pleiotropic Map of GWAS Associations and Therapeutic Implications

This paper analyzes 100,526 GWAS to identify pleiotropic genes and their therapeutic implications, finding that highly pleiotropic genes are associated with safety liabilities and that combining PAV support with intermediate pleiotropy improves therapeutic success.

Replication of 10 novel loci involved in human plasma protein N-glycosylation using MALDI-MS and UHPLC-FD data

The paper replicates ten novel loci associated with human plasma N-glycosylation using MALDI-MS and UHPLC-FD data and identifies potential causal genes.

Reconstructing N-Glycan Profiles of Individual Glycoproteins from the Total Blood Plasma N-Glycome: Implications for Immunoglobulin G N-Glycosylation GWAS

The paper reconstructs IgG-specific N-glycan profiles from total plasma N-glycome data, identifies known and novel loci associated with IgG N-glycosylation, and enables meta-analyses without new samples.

Evaluating transportability of in-vitro cellular models to in-vivo human phenotypes using gene perturbation data

The paper evaluates the transportability of in-vitro gene perturbation models to in-vivo human phenotypes using CRISPR data and UK Biobank, finding some models are predictive while others are not.

A genome-wide association study in 10,000 individuals links plasma N-glycome to liver disease and anti-inflammatory proteins

This study identifies 16 new genetic loci associated with plasma N-glycosylation in 10,000 individuals and links them to liver disease and inflammatory proteins.

Decomposing the genetic background of chronic back pain

This paper decomposes the genetic background of chronic back pain into shared and unshared components, identifying genes associated with different subphenotypes and biological pathways.

Genetic mechanisms of 184 neuro-related proteins in human plasma

The paper identifies genetic regulators of 184 neuro-related proteins in human plasma and links them to disease traits and drug targets.

Mapping of the gene network that regulates glycan clock of ageing

The paper identifies 16 genomic loci associated with IgG galactosylation through GWAS and validates three genes using CRISPR/dCas9 in an in vitro system.

Analysis of associations between polygenic risk score and COVID-19 severity in a Russian population using low-pass genome sequencing

This study uses a polygenic risk score derived from genome-wide data to identify individuals at higher risk of severe COVID-19 in a Russian population.

Protocol for disease-oriented Russian disc degeneration study (RuDDS) biobank facilitating functional omics studies of lumbar disc degeneration

This paper describes a biobank protocol for studying lumbar disc degeneration using clinical and omics data from 1100 participants.

Same role but different actors: genetic regulation of post-translational modification of two distinct proteins

The paper identifies genetic loci regulating glycosylation of transferrin and IgG, finding both shared and protein-specific associations and proposing tissue-specific transcription factor regulation.

Identification of tissue-specific and common methylation quantitative trait loci in healthy individuals using MAGAR

The paper introduces MAGAR, a framework to identify methylation quantitative trait loci (methQTLs) and distinguish common from cell-type-specific effects using DNA methylation and genotyping data.

Genome-wide association study identifies RNF123 locus as associated with chronic widespread musculoskeletal pain

This study identifies three genetic loci associated with chronic widespread musculoskeletal pain, with the RNF123 locus replicated in independent cohorts.

Random glucose GWAS in 493,036 individuals provides insights into diabetes pathophysiology, complications and treatment stratification

This study performs a GWAS on random glucose measurements in 493,036 individuals, identifying 128 loci associated with glycaemic traits and providing insights into diabetes biology and treatment.

Analysis of genetically independent phenotypes identifies shared genetic factors associated with chronic musculoskeletal pain at different anatomic sites

The paper identifies shared genetic factors for chronic musculoskeletal pain across different anatomic sites using genetically independent phenotypes derived from UK Biobank data.

Beyond power: Multivariate discovery, replication, and interpretation of pleiotropic loci using summary association statistics

This paper develops a multi-trait framework for discovering, replicating, and interpreting pleiotropic loci using GWAS summary statistics, identifying novel genetic associations without additional genotyping.

Defining the genetic control of human blood plasma N-glycome using genome-wide association study

This study identifies twelve genetic loci associated with human blood plasma N-glycome composition through genome-wide association analysis, revealing both direct and indirect genetic influences on glycosylation.

Insight into the genetic architecture of back pain and its risk factors from a study of 509,000 individuals

This study conducts a large GWAS on back pain, identifies genetic loci, and explores genetic correlations with risk factors, revealing complex genetic architecture and molecular pathways.

Network based conditional genome wide association analysis of human metabolomics

The paper introduces a network-based conditional GWAS method to analyze metabolomics data, identifying additional loci by improving genetic effect precision and handling pleiotropic scenarios.

Genome-wide Meta-analysis of 158,000 Individuals of European Ancestry Identifies Three Loci Associated with Chronic Back Pain

This paper conducts a genome-wide meta-analysis of chronic back pain in 158,025 individuals, identifying three genetic loci associated with the condition.

Coat color allele and mtDNA haplotype distributions in Russian cat populations: a citizen-science research

The paper analyzes coat color alleles and mtDNA haplotypes in Russian cats to study population genetics and phylogeography, finding genetic homogeneity and unique mitotypes.