Aarno V. Palotie

The paper identifies rare protein-altering variants in ANGPTL7 that lower intraocular pressure and reduce glaucoma risk by analyzing genotyping data from UK Biobank and FinnGen.

The paper analyzes missense variants in 1,330 disease genes using 3D protein structures to identify mutational hotspots and their functional impact.

The paper identifies regions in protein sequences enriched for pathogenic variants using gene family alignments and demonstrates their enrichment in neurodevelopmental disorder de novo variants and ClinVar pathogenic classifications.

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

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

This study identifies 14 genome-wide significant loci and a polygenic signature for myeloproliferative neoplasms, implicating hematopoietic stem cell function and self-renewal in disease risk.

The paper reanalyzes UK Biobank data and two population samples to show CCR5-del32 homozygosity is not associated with increased mortality or disease risk.

The paper uses pleiotropic meta-analysis to identify genetic loci associated with cognition, education, and schizophrenia, revealing distinct biological mechanisms for concordant and discordant genetic correlations.

This study examines geographic variation and bias in polygenic scores for complex traits in Finland, finding that population genetic structure may cause apparent geographic patterns rather than direct genotype-phenotype associations.

The paper evaluates copy number burden in specific epilepsy types using a genome-wide study of 18,564 subjects, identifying novel CNV loci and showing deletion burden outside known hotspots in lesional focal epilepsies.

Exome sequencing in Finnish populations identifies rare trait-associated alleles with higher frequencies and geographical clustering, revealing 30 novel associations with quantitative traits.

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 identifies five genome-wide significant loci and seven shared with other traits in a large ASD GWAS, highlighting polygenic heterogeneity and the value of large-scale GWAS in ASD.

This study identifies 99 genes associated with autism spectrum disorder through large-scale exome sequencing, showing differences in mutation frequencies between ASD and severe neurodevelopmental delay groups.

This study conducts a trans-ancestral GWAS of alcohol dependence, identifying genetic variants and correlations with psychiatric disorders.

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

The paper reassesses the pathogenicity of gene variants associated with focal human epilepsies using evolutionary constraint, ACMG guidelines, and bioinformatic tools.

This study identifies 206 new genomic loci and 1,041 genes associated with intelligence using a large GWAS meta-analysis of 279,930 individuals.

The paper identifies de novo variants in neurodevelopmental disorders with epilepsy and finds associations with specific genes and clinical features.

The paper investigates the impact of rare protein truncating variants on 13 quantitative traits and 10 diseases using whole-exome sequencing data from 100,296 individuals, finding increased risk for several disorders and associations with other phenotypes.

The paper investigates the genetic contributions to intellectual disability, finding rare variants are more common in severe cases and common variants contribute to all severity levels.

This study uses haplotype sharing among Finns to reconstruct recent population history and identify regions with increased rare disease variant sharing.

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 paper uses PheWAS across large cohorts to identify genetic associations with drug targets and predict drug safety and efficacy.

The paper discusses the role of whole genome sequencing in psychiatric disorders through the WGSPD consortium, aiming to assess its utility compared to other genotyping methods.

This study performs a large-scale GWAS of cognitive ability, identifies 70 genomic loci, and finds tissue-specific gene expression and potential drug targets.

The paper integrates transcriptomic, metabolomic, and genomic data to identify gene networks and their genetic regulation linked to immune function and circulating metabolites.

This study assesses the association between polygenic risk scores for LDL-C and TG with CAD risk, finding a proportional relationship with lipid levels and partial independence from a CAD PRS.