Kati M. Donner

This study identifies prevalence and disease risks for male and female sex chromosome trisomies using registry data from 1.5 million participants, finding shared phenotypic associations across trisomy subtypes.

The paper describes EATRIS activities for quality assessment in multi-omics data generation and integration, aiming to support translational medicine through a Multi-Omics Toolbox.

The paper analyzes genetic and phenotypic data from 4,145 Russians to explore ethnic diversity and genetic associations, finding enrichment of Finnish-specific variants and providing a GWAS database.

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.