Mari Anneli Kaunisto

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.

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.

Implementation of CYP2D6 copy-number imputation panel and frequency of key pharmacogenetic variants in Finnish individuals with a psychotic disorder

The paper constructs a CYP2D6 copy-number imputation panel and reports pharmacogenetic variant frequencies in Finnish individuals with psychosis, showing high imputation accuracy but limited clinical utility.

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.

Common variant burden contributes significantly to the familial aggregation of migraine in 1,589 families

This study shows common genetic variants significantly contribute to migraine family clustering, with higher burden in familial cases compared to population-based cases.