Tõnu Esko

Ultra-rare damaging coding variants in 87,959 schizophrenia cases and 150,587 controls implicate 40 genes (16 exome-wide, 24 at 5% FDR), half overlapping autism, developmental delay or bipolar genes.

This study identifies genetic loci associated with antihypertensive medication switching, implicating neurotensin-NTSR1 signaling in ACE inhibitor-induced cough and CYP3A4*22 in dCCB intolerance.

This study performs a large-scale GWAS on 249 metabolic traits in 619,372 individuals, identifying 88,604 associations and using MR to explore causal links between metabolites and diseases.

This study shows that circadian misalignment contributes to myopia across species, with reversible effects in mice and associations in human populations.

The paper introduces co-expression-based models to improve eQTL predictions and identifies novel schizophrenia-associated genes using brain RNA-seq data.

The paper shows that migration behavior in Estonia increases spatial genetic differentiation at trait-associated loci, with educational attainment PGS driving inter-regional differences.

The paper analyzes over 800,000 human genomes to assess penetrance of clinically relevant variants, finding that 95% of pLoF variants in severe diseases have explanations for lack of disease manifestation.

The paper identifies USP18 as a negative regulator of interferon response at a lupus risk locus through trans-eQTL analysis in lymphoblastoid cell lines.

The paper infers parent-of-origin effects in ~265,000 individuals using a novel method, identifying over 30 novel POEs and confirming known associations, supporting the parental conflict hypothesis.

The paper identifies novel CNV loci and dose-dependent gene effects across six psychiatric disorders using genome-wide analysis.

The paper identifies shared and divergent genetic mechanisms across psychiatric disorders using gene-set burden analysis of copy number variants.

This study identifies 1,257 genetic variants associated with human personality traits using large-scale GWAS and finds widespread genetic correlations with behaviors and life outcomes.

The paper updates a polygenic index repository with more phenotypes, datasets, and improved causal inference methods, enhancing predictive performance and interpretability.

This study identifies 21 infertility loci and over 400 reproductive hormone loci through GWAS across multiple cohorts, finding limited genetic correlation between reproductive hormones and infertility.

The paper uses Estonian Biobank data to identify genetic loci associated with 5,491 disease phenotypes, finding 3,222 genome-wide significant loci and 754 protein-altering variant-trait associations.

This study performs a GWAS meta-analysis of psoriasis, identifying 109 susceptibility loci, including 45 new ones, and highlights potential therapeutic targets and disease mechanisms.

This paper conducts a genome-wide association study to identify genetic variants associated with varenicline-aided smoking cessation using electronic health records.

This study identifies 13 genetic loci associated with pneumonia risk using GWAS across multiple subpopulations, highlighting immunological and lifestyle factors.

This study identifies 80 genetic loci and 61 effector genes associated with dilated cardiomyopathy through GWAS and integrates transcriptomic data to uncover biological pathways and cellular states involved in the disease.

The paper reviews the Estonian Biobank's role in advancing genomics research and personalized medicine through its comprehensive data and translational focus.

This study identifies shared genetic components between thyroid disorders and reproductive health using GWAS and genetic correlation analysis in 743,088 individuals.

This study identifies six novel genetic loci associated with BMI change over adulthood using UK Biobank health records, finding lower heritability for BMI change compared to baseline BMI.

The paper identifies a regulatory variant in IRF6 associated with increased cleft palate risk in Finland and shows it disrupts IRF6 enhancer function.

The paper identifies genetically distinct patient subgroups across diseases by analyzing polygenic risk and pathway convergence.

This study identifies metabolites causally linked to type 2 diabetes and its complications, revealing genetic regulation effects and metabolic pathways involved.

This study identifies 8 novel genetic risk loci for psoriasis and finds genetic correlations with socio-economic status and affective symptoms.

This study identifies genetic determinants of plasma protein levels in the Estonian population, including common, rare, and copy number variants, and provides fine-mapped credible sets for 151 proteins.

This study identifies genetic variants associated with income and shows they correlate with health outcomes and educational attainment.

Rare-variant depletion in 1kb windows of 76,156 gnomAD genomes, versus feature-adjusted mutation expectations, marks regulatory elements and outperforms seven alternative scores at flagging functional non-coding variants.

The paper develops a method to infer compound heterozygosity from exome sequencing data, achieving high accuracy in phasing rare variants for recessive disease diagnosis.