Juha M Karjalainen

Rare variation illuminates the distinct and pleiotropic genetic architecture of autism across neuropsychiatric traits

The paper identifies 253 autism-associated genes using rare variation from 62,429 individuals and finds pleiotropy across physiological systems and developmental disorders.

Population-scale multiome immune cell atlas reveals complex disease drivers

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

Early establishment and life course stability of sex biases in the human brain transcriptome

The paper examines sex biases in the human brain transcriptome across development and adulthood, finding that many sex differences originate in the prenatal period and persist into adulthood.

Genome-wide Association Study of Long COVID

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.

Widespread recessive effects on common diseases in a cohort of 44,000 British Pakistanis and Bangladeshis with high autozygosity

The paper identifies 185 genome-wide significant loci associated with common diseases in a cohort of British Pakistanis and Bangladeshis with high autozygosity, focusing on recessive genetic effects.

Inherited infertility- mapping loci associated with impaired female reproduction

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

High incidence and geographic distribution of cleft palate cases in Finland are associated with a regulatory variant in IRF6

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

A FinnGen pilot clinical recall study for Alzheimer's disease

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.

GWAS of preeclampsia and hypertensive disorders of pregnancy uncovers genes related to cardiometabolic, endothelial and placental function

This study conducts a GWAS of preeclampsia and hypertensive disorders of pregnancy, identifying 18 genome-wide significant loci, including novel associations with blood pressure and placental function.

Global biobank analyses provide lessons for developing polygenic risk scores across diverse cohorts

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.

Meta-analysis fine-mapping is often miscalibrated at single-variant resolution

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

Global Biobank Meta-analysis Initiative: powering genetic discovery across human diseases

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.

Genetic risk factors have a substantial impact on healthy life years

This study estimates the impact of genetic risk factors on disease burden using disability-adjusted life years (DALYs) and finds that both common and rare variants significantly contribute to healthy life years lost.

Mapping the human genetic architecture of COVID-19: an update

This study updates the genetic architecture of COVID-19 by adding 11 new genome-wide significant loci through a large GWAS meta-analysis.

Comprehensive genome-wide association study of different forms of hernia identifies more than 80 associated loci

This study identifies 81 genetic loci associated with different hernia types using genome-wide association analysis in the UK Biobank.

FinnGen: Unique genetic insights from combining isolated population and national health register data

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.

Mono- and bi-allelic effects of coding variants on disease in 176,899 Finns

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.

Insights into genetic factors contributing to variability in SARS-CoV-2 susceptibility and COVID-19 disease severity

This study identifies genetic loci associated with SARS-CoV-2 susceptibility and disease severity using GWAS and colocalization, and links them to eQTLs in various tissues.

A global atlas of genetic associations of 220 deep phenotypes

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.

Insights from complex trait fine-mapping across diverse populations

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.

Using symptom-based case predictions to identify host genetic factors that contribute to COVID-19 susceptibility

The paper uses symptom-based case predictions to conduct a GWAS on COVID-19, finding new genetic susceptibility insights and suggesting different genetic architectures for severity and susceptibility.

Genetic variant in SPDL1 reveals novel mechanism linking pulmonary fibrosis risk and cancer protection

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

ANGPTL8 protein-truncating variant and the risk of coronary disease, type 2 diabetes and adverse effects

The paper identifies protein-truncating variants in ANGPTL8, ANGPTL4, and LIPG associated with lipid levels and cardiometabolic disease risk, and reports their associations with type 2 diabetes, coronary artery disease, and other adverse effects.

Genetic analyses identify widespread sex-differential participation bias

The paper identifies sex-differential participation bias in genetic studies by performing GWAS on sex in 3.3 million individuals, finding 158 loci associated with sex and highlighting traits like BMI that may influence participation.

Shared genetic etiology between idiopathic pulmonary fibrosis and COVID-19 severity

This paper investigates the genetic link between idiopathic pulmonary fibrosis and severe COVID-19, finding a positive genetic correlation and suggesting a causal effect of most IPF risk variants on COVID-19 severity, except for the MUC5B variant which shows protective effects.

Mapping the human genetic architecture of COVID-19 by worldwide meta-analysis

This study identifies 13 genome-wide significant loci associated with SARS-CoV-2 infection or severe COVID-19 through a global meta-analysis of 49,562 patients.

Genetic analysis of obstructive sleep apnoea discovers a strong association with cardiometabolic health

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.

Genome-wide Screen of Otosclerosis in Population Biobanks: 18 Loci and Shared Heritability with Skeletal Structure

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

An efficient and accurate frailty model approach for genome-wide survival association analysis controlling for population structure and relatedness in large-scale biobanks

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.

Transcript expression-aware annotation improves rare variant discovery and interpretation

The paper develops an expression-based annotation metric to improve rare variant interpretation by filtering false-positive loss-of-function variants and identifying pathogenic variants in highly expressed exons.