Susanna M. Lemmelä

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.

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.

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.

The paper performs a GWAS meta-analysis of cervical cancer and links it to reproductive tract development, immune response, and cellular proliferation/apoptosis, while also identifying genetic risk factors for other cervical phenotypes.

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.