Ilkka Seppälä

OTTERS: A powerful TWAS framework leveraging summary-level reference data

OTTERS is a TWAS framework that uses summary-level eQTL reference data to estimate eQTL weights and perform omnibus TWAS, showing improved power and applicability.

Unraveling the polygenic architecture of complex traits using blood eQTL meta-analysis

The paper uses blood eQTL meta-analysis to explore the polygenic architecture of complex traits, finding that trans-eQTLs are more informative for identifying causal genes than cis-eQTLs.

Genetic Association Study of Childhood Aggression across raters, instruments and age

This study conducts a genome-wide association meta-analysis of childhood aggression across multiple raters, instruments, and ages, identifying genetic correlations with various traits but no genome-wide significant SNPs.

Multivariate genome-wide association analysis of a cytokine network reveals variants with widespread immune, haematological and cardiometabolic pleiotropy

This study identifies genetic variants with pleiotropic effects on cytokines and related traits using a multivariate genome-wide association analysis.

Mendelian Randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits

This paper introduces TWMR, a Mendelian Randomization method that identifies gene-trait associations by integrating GWAS and eQTL data, revealing 3,913 novel associations across 43 human phenotypes.

Genetic and environmental perturbations lead to regulatory decoherence

This study identifies genetic and environmental factors that disrupt trait correlations, showing environmental perturbations reduce correlations and genetic factors influence correlation patterns.

Atrial Fibrillation Genetic Risk Differentiates Cardioembolic Stroke from other Stroke Subtypes

The paper assesses if genetic risk for atrial fibrillation explains cardioembolic stroke risk using genome-wide data from the Stroke Genetics Network.

Novel susceptibility loci and genetic regulation mechanisms for type 2 diabetes

This study identifies 139 common and 4 rare genetic variants associated with type 2 diabetes through GWAS and integrates gene expression and epigenomic data to highlight potential functional genes and regulatory mechanisms.

Consortium genome-wide meta-analysis for childhood dental caries traits

This paper conducts a consortium-wide GWAS to identify genetic variants associated with childhood dental caries, finding two significant loci but low heritability estimates.

Identifying gene targets for brain-related traits using transcriptomic and methylomic data from blood

The paper identifies gene targets for brain-related traits using transcriptomic and methylomic data from blood, finding strong correlations between genetic effects in brain and blood tissues.

An epigenome-wide association study of educational attainment (n = 10,767)

This study investigates the association between CpG methylation and educational attainment, finding limited significant associations that may be influenced by confounding factors.

Genome-wide association study identifies 17 new loci influencing concentrations of circulating cytokines and growth factors

This study identifies 17 new genetic loci associated with circulating cytokine and growth factor concentrations in Finns, linking them to immune-related diseases and potential drug targets.

Systems medicine links microbial inflammatory response with glycoprotein-associated mortality risk

This study links elevated glycoprotein acetyls (GlycA) to chronic inflammation and microbial infection risk using integrative omics and health records.