University of Eastern Finland

Analysis of protein-coding genetic variation in 60,706 humans

Alzheimer's disease

FinnGen provides genetic insights from a well-phenotyped isolated population

Simplified neuron model as a principal component analyzer

Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk

Preclinical Alzheimer's disease: Definition, natural history, and diagnostic criteria

Abstract During the past decade, a conceptual shift occurred in the field of Alzheimer's disease (AD) considering the disease as a continuum. Thanks to evolving biomarker resear...

Urinary sodium excretion and cardiovascular mortality in Finland: a prospective study

Quantifying prion disease penetrance using large population control cohorts

Large genomic reference data sets reveal a spectrum of pathogenicity in the prion protein gene and provide genetic validation for a therapeutic strategy in prion disease.

Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

Abstract Upstream open reading frames (uORFs) are tissue-specific cis -regulators of protein translation. Isolated reports have shown that variants that create or disrupt uORFs ...

Evaluating drug targets through human loss-of-function genetic variation