Mart Kals

The paper examines how gene dosage, polygenic background, and environment influence complex traits like height and BMI using large-scale data from multiple cohorts.

This paper identifies genetic variants associated with amiodarone-induced thyroid dysfunction and shows they improve risk prediction beyond general thyroid disease PRS.

This study identifies 22 novel gene-sleep duration interaction loci for blood pressure traits across 811,405 individuals, highlighting distinct genetic influences of short and long sleep on cardiovascular health.

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 17 genetic loci associated with sleep duration and lipid levels, offering potential druggable targets for dyslipidemia in individuals with sleep disturbances.

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

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 1,289 genetic signals for type 2 diabetes in 2.5 million individuals, revealing distinct clusters linked to vascular complications and highlighting ancestry-specific genetic risk factors.

The paper demonstrates the feasibility of conducting clinical recall studies from the FinnGen biobank to collect customized clinical data from participants with Alzheimer's disease or mild cognitive disorder.

The paper introduces an omics-informed quality score to improve CNV detection and association analysis by reducing false positives and increasing statistical power.

This study identifies 277 T2D loci using diverse populations and improves fine-mapping to assess causal genes and mechanisms, enhancing clinical translation.

The paper evaluates a genotype-first approach for identifying BRCA1/2 variant carriers in a biobank cohort and assesses the impact of risk disclosure.

This study compares the effectiveness of ethnically matched and mixed reference panels for imputing rare variants in GWAS, showing improved detection of rare variant associations with matched panels.

This study uses genome sequencing and epigenomic data to identify genetic variants influencing blood cell traits and uncover regulatory mechanisms in hematopoiesis.

This study finds that ultra-rare disruptive variants in highly constrained genes are associated with reduced educational attainment in the general population.