FinnGen

This study conducts a GWAS of Lyme disease, identifying five genetic loci and linking it to post-infectious diseases like Bell palsy and joint pain.

The paper introduces the Proteomic Sex Index (PSI), a continuous measure of plasma proteome alignment with chromosomal sex, showing its association with health and disease traits.

The paper develops and validates polygenic risk scores (PRS) for 150 diseases and mortality using UK Biobank and FinnGen data, showing genetic information provides the largest predictive gains for certain diseases but not others.

The paper investigates intergenerational instability of C9orf72 hexanucleotide repeats, finding increased instability in alleles with >20 repeats and a paternal expansion bias in 20-40 repeat alleles.

This study examines the association between maternal and fetal HLA heterozygosity and preeclampsia risk in a large multi-ancestry cohort, finding protective and risk associations for specific HLA loci.

The paper investigates the effect of the PKHD1L1 splice donor variant rs17368310 on female fertility, showing reduced child count in homozygous carriers across Finnish and Mexican populations.

This study identifies genetic variants associated with healthcare costs across multiple systems, finding polygenic influences and large effects from specific loss-of-function variants.

The paper infers circadian phase from blood biomarkers in UK Biobank using machine learning and defines a new construct, circadian acceleration, with genetic and environmental associations.

This study explores proteomic and epigenetic aging clocks as biomarkers for Alzheimer's disease phenotypes, finding proteomic clocks improve explained variance in cognitive and biomarker measures by up to 18%.

This paper performs fine-mapping of HLA effects in lichen planus subtypes, identifying specific HLA haplotypes associated with increased or decreased risk in oral and non-oral forms.

The paper identifies 260 genes associated with sleep phenotypes using rare coding variants from large-scale sequencing data, revealing distinct genetic architectures and biological mechanisms across different sleep measurements.

Phenome-wide scan of Y-chromosomal variants against 1,426 traits in 104,334 Finnish men finds no significant hits; kin-based validation supports haplogroup I1 increasing coronary heart disease risk.

This study identifies 105 genetic loci associated with 67 oral diseases and finds strong genetic correlations between oral and systemic conditions.

This study identifies 2,973 genetic loci associated with health outcomes in blood donors, suggesting genetic factors contribute to the healthier donor effect.

This study identifies 39 genetic loci shared between cannabis use and sleep traits through a meta-analysis of 152,807 cases and 220,272 controls.

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

This paper investigates associations between genetic and exogenous estrogen exposure and cardiovascular disease risk in women using GWAS and register-based hormone data.

This study fine-maps genome-wide association study results for migraine, identifying 181 credible sets of candidate causal variants across 102 regions.

The paper reduces misclassification bias in EHR-based GWAS of psychiatric traits using SuperControl and PRISMA, increasing locus discovery and biological specificity.

This study identifies maternal and fetal genetic contributions to preeclampsia through genome-wide association analyses, revealing distinct genetic architectures and biological pathways.

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

The paper removes genetic effects from plasma proteins to enhance their utility as disease biomarkers, showing improved associations with diseases and environmental factors.

This study evaluates if weight loss from a dietary intervention varies by genetic predisposition to higher BMI, finding no significant interaction between polygenic scores and intervention effectiveness.

The paper compares genetic effects on disease susceptibility and progression, finding limited overlap and suggesting larger samples or different progression measures are needed.

The paper examines how protective PLCG2 variants delay Alzheimer's onset in APOE ε4 carriers and identifies associated plasma biomarkers.

This study examines how polygenic scores and socioeconomic status jointly influence risk for 19 diseases, finding distinct and partly interacting effects across populations.

This study conducts a genome-wide association study (GWAS) of ME/CFS, identifying eight genetic loci associated with the disease, suggesting involvement of immune and neurological processes.

This study identifies 1,242 novel genetic variants and 31 novel genes associated with frailty through genome-wide association and proteomics integration.