Arthur Gilly

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.

Epigenomic profiling of the infrapatellar fat pad in osteoarthritis

The paper examines DNA methylation profiles in infrapatellar fat pad and blood from osteoarthritis patients, identifies mQTLs, and uses Mendelian randomization to explore disease mechanisms.

Using multivariable Mendelian randomization to estimate the causal effect of bone mineral density on osteoarthritis risk, independent of body mass index

This study uses multivariable Mendelian randomization to show that higher bone mineral density causally increases osteoarthritis risk independently of body mass index.

Whole genome sequencing analysis of the cardiometabolic proteome

The paper uses whole-genome sequencing to analyze the genetic architecture of 257 cardiometabolic protein biomarkers, identifying 131 sequence variant associations and constructing polygenic scores that explain up to 45% of protein variation.

The transferability of lipid loci across African, Asian and European cohorts

This study assesses the transferability of lipid loci across African, Asian, and European populations, finding high consistency but also population-specific variations.

Population-wide copy number variation calling using variant call format files from 6,898 individuals

This paper calls copy number variants from whole-genome sequencing data of 6,898 individuals using a regression tree-based method, identifying 1,320 CNVs and their potential clinical impact.

Mendelian Randomization analysis reveals a causal influence of circulating sclerostin levels on bone mineral density and fractures

This paper uses Mendelian Randomization to show that higher circulating sclerostin levels causally reduce bone mineral density and increase fracture risk.

Very low depth whole genome sequencing in complex trait association studies

This study evaluates very low depth whole genome sequencing for complex trait association studies, showing it can efficiently discover association signals comparable to imputed GWAS chip designs.

Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits

The paper performs deep whole genome sequencing on 1,457 individuals to investigate rare variant contributions to cardiometabolic traits, identifying new regulatory variants and gene-trait associations.

Transposon accumulation lines uncover histone H2A.Z-driven integration bias towards environmentally responsive genes

The paper identifies histone H2A.Z-driven integration bias of transposable elements towards environmentally responsive genes in Arabidopsis thaliana.

Narrow-sense heritability estimation of complex traits using identity-by-descent information.

This paper estimates narrow-sense heritability using identity-by-descent information in unrelated individuals and finds that IBD-based methods can capture rare variant contributions but are affected by stratification.

The genetic architecture of osteoarthritis: insights from UK Biobank

This study identifies 9 new osteoarthritis loci using UK Biobank data and finds causal effects of higher body mass index on osteoarthritis.