Mitja Kurki

The paper identifies a loss-of-function variant in INTS6 in a family with intellectual disability, showing transcriptomic effects including splicing defects and downregulation of synaptic genes.

The paper uses population-scale single-nucleus ATAC-seq and RNA-seq to identify regulatory variants and their disease associations in immune cells.

This paper improves type 2 diabetes polygenic risk scores by including rare and population-specific variants, showing better risk prediction in diverse populations.

This paper identifies SORCS3 as a novel genetic locus associated with panic disorder through a genome-wide association study in the FinnGen study and validates it in independent samples.

The paper benchmarks polygenic scores in a large cohort, identifies top-performing models, and provides a public platform for PGS analysis and interpretation.

The paper identifies CFHR5 variants that reduce AMD risk by lowering FHR-5 levels and altering complement pathway activity.

The paper identifies genetic loci associated with female infertility through a GWAS, revealing a rare recessive mutation in TBPL2 and age-dependent risk factors.

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 shows that PLCG2 downregulation impairs synaptic function and increases Alzheimer's disease-related markers in neurons.

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.

This study identifies 64 new risk loci for major depression, refines its genetic architecture, and shows strong genetic overlap with other psychiatric disorders and educational attainment.

This study identifies eight genes associated with adult cognitive function through rare coding variants and shows how KDM5B dosage affects cognitive traits in mice and humans.

The paper presents clinical and molecular data on 65 individuals with SMARCC2-associated neurodevelopmental disorders, distinguishing phenotypes based on variant types and identifying potential pathomechanisms.

This study evaluates polygenic risk score methods across diverse biobanks and ancestries, finding that European reference panels often yield better performance, while PRS-CS outperforms P+T for high-heritability traits.

This paper shows that meta-analysis fine-mapping is often miscalibrated due to cohort heterogeneity and introduces a QC method to identify suspicious loci.

Meta-analysis of harmonized GWAS from up to 18 biobanks (six ancestry groups) across 14 endpoints replicated 320 known loci and identified 188 apparently novel loci.

This study investigates how the 22q11.2 deletion affects gene expression in neural progenitor cells and neurons, linking it to schizophrenia risk through altered presynaptic gene products.

Finnish-enriched low-frequency variants, often coding, underlie many GWAS signals across 1,932 register endpoints in 218,792 Finns; a 15-disease meta-analysis with Estonian and UK biobanks adds 30 unreported associations.

This study combines sequencing and genotyping data from two biobanks to identify 975 protein-coding variant associations across 744 disease endpoints, enhancing understanding of genetic disease mechanisms and drug targets.

The paper analyzes homozygous and heterozygous effects of coding variants on disease in 176,899 Finns using EHR data, finding novel associations and challenging traditional dominant/recessive classifications.

Cross-population GWAS of 220 phenotypes in BioBank Japan, UK Biobank, and FinnGen (n=628,000) identifies 5,343 previously unreported loci and decomposes summary statistics into latent genetic components for disease subtyping.

Fine-mapping 148 complex traits in three biobanks with combined n = 811,261 yields 4,518 causal variant-trait pairs, 285 of them repeating in more than one population.

The paper identifies a genetic variant in SPDL1 that links pulmonary fibrosis risk and cancer protection through antagonistic pleiotropy.

This study applies an improved GWAS strategy to age-related diseases, identifying new genetic loci by using multiple reference panels, analyzing the X chromosome, and testing non-additive models.

This study identifies five genetic loci associated with obstructive sleep apnoea and finds a causal link between BMI and OSA through polygenic risk scores and Mendelian randomization.

This study identifies 15 new risk loci for otosclerosis and replicates known associations, highlighting shared genetic links with skeletal structure and bone-related disorders.

The paper introduces a frailty model for genome-wide survival analysis in large biobanks, handling population structure and relatedness, and demonstrates its performance on real-world datasets.

This study uses polygenic risk scores from three biobanks to show that genetic susceptibility to traits like high blood pressure and obesity is associated with shorter lifespan.

The paper evaluates polygenic risk scores and clinical risk factors for predicting early-onset cardiometabolic diseases and cancers, showing comparable performance to clinical scores.

The paper conducts GWAS and PheWAS on plasma lipid species to identify genetic associations and their links to diseases beyond traditional lipid measures.