FinnGen

This study identifies 93 genetic loci associated with alcohol-related diseases using FinnGen data and shows polygenic risk scores can stratify risk for these diseases and related outcomes.

This study uses haplotype analysis to identify disease associations in the HLA region across 412,181 Finnish individuals, revealing pleiotropic patterns and 7,649 associations across 647 traits.

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.

This study identifies 59 novel genome-wide significant loci shared between coronary artery disease and aortic aneurysms through joint meta-analysis and functional characterization.

This study uses Drosophila to model insomnia-associated genes and identifies genetic factors influencing sleep quantity, timing, and quality, revealing subtype-specific effects.

The paper estimates heritability for 2,321 plasma proteins using twin data and finds that SNP-based heritability accounts for only half of the total genetic effects.

This study performs a genome-wide association study for Long COVID, identifying a significant association with the FOXP4 locus and highlighting the role of pulmonary dysfunction and COVID-19 severity.

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.

This study identifies a genetic correlation between chronotype and ease of getting-up, prioritizing the GPR61 locus and variant rs12044778 through colocalization and functional analysis.

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 genome-wide association analysis on composite sleep health scores, identifying 28 novel loci and confirming 341 previously reported loci, with insights into genetic mechanisms and pathways.

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

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

This study conducts a genome-wide meta-analysis across three biobanks to identify new genetic loci associated with lumbar disc herniation, expanding the known genetic landscape.

This study identifies gene-environment interactions between excessive daytime sleepiness and genetic variants linked to obstructive sleep apnea severity, revealing novel therapeutic targets.

Family-based GWAS meta-analysis of 34 phenotypes shows standard GWAS effects carry sizeable confounding uncorrelated with direct genetic effects, while assortative mating likely inflates SNP heritability and genetic correlations.

This study identifies nine genetic loci associated with transient global amnesia and highlights a vascular role in memory through pericyte cell enrichment.

This study shows that epilepsy polygenic risk scores (PRSs) can predict epilepsy risk across lifetimes and after seizure events in a large Finnish cohort.

The paper identifies non-linear genetic regulation of plasma proteins using a deep learning method, finding dominance and epistasis effects in large cohorts.

This study identifies genetic risk loci and candidate genes for inflammatory polyneuropathy and CIDP through GWAS and functional analyses.

The paper develops Blood Cell Painting (BCP) to profile immune cell morphology in healthy donors, identifying genetic and clinical associations with immune cell features.

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

This study identifies 31 plasma proteins and expands genetic loci associated with PCOS, highlighting metabolic and hormonal influences and polygenic risk effects on cardio-metabolic outcomes.

The paper uses Mendelian Randomization to assess the causal link between maternal influences on birth weight and five health outcomes in 36,211 genotyped mother-child pairs.

This study shows that the CD47-SIRP axis regulates platelet homeostasis and that blocking this interaction affects platelet levels in mice and humans.

This study conducts a GWAS to analyze acne severity, identifying two new loci and six novel genes associated with severity, while showing limited overlap with known acne risk loci.

This study identifies 495 genetic associations with plasma lipid species using genome-wide analysis in 7,174 Finnish individuals and fine-mapping in 377,277 participants, revealing 9 novel loci and disease links.