Sanni Ruotsalainen

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.

Role of X chromosome and dosage compensation mechanisms in complex trait genetics

This study assesses the contribution of the X chromosome to complex trait heritability and finds evidence of dosage compensation mechanisms affecting its genetic influence.

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.

Genome-wide association analysis of plasma lipidome identifies 495 genetic associations

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.

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.

Lipidome- and genome-wide study to understand sex differences in circulatory lipids

The paper examines sex differences in circulatory lipids and their genetic determinants using lipidomics and genome-wide association studies across multiple cohorts.

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.

Communicating polygenic and non-genetic risk for atherosclerotic cardiovascular disease - An observational follow-up study

This study evaluates the impact of communicating polygenic and clinical risk scores for ASCVD via a web tool, finding that high-risk individuals made more health behavior changes.

Genome-wide analysis of 102,084 migraine cases identifies 123 risk loci and subtype-specific risk alleles

This GWAS identifies 123 migraine risk loci, including subtype-specific variants and novel targets, supporting neurovascular mechanisms in migraine.

Genetic analyses on the health impacts of testosterone highlight effects on female-specific diseases and sex differences

This study uses genetic data to examine testosterone's effects on health, finding sex-specific impacts on female reproductive health and complex associations with disease risk.

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.

An expanded analysis framework for multivariate GWAS connects inflammatory biomarkers to functional variants and disease

The paper introduces a multivariate GWAS framework that identifies functional variants and disease associations by transforming multivariate results into univariate phenotypes for follow-up analysis.

Geographic variation and bias in polygenic scores of complex diseases and traits in Finland

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.

Polygenic risk score of alcohol consumption predicts alcohol-related morbidity and all-cause mortality

Deep-coverage whole genome sequences and blood lipids among 16,324 individuals

The paper analyzes whole genome sequences from 16,324 individuals to identify genetic variants associated with blood lipid levels and develops a polygenic score for LDL-C.

Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

The paper uses whole genome sequencing to identify genetic variants associated with plasma lipoprotein(a) levels and finds high heritability and inter-ethnic differences in Lp(a) risk.

The rate of false polymorphisms introduced when imputing genotypes from global imputation panels

This study evaluates false polymorphism rates in imputed Finnish genotype data using global vs. population-specific reference panels, finding higher false positives with global panels.