Timo Petteri Sipila

The paper benchmarks polygenic scores in a large cohort, identifies top-performing models, and provides a public platform for PGS analysis and interpretation.

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 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.

This study identifies genetic drivers and cellular selection signatures of mosaic X chromosome loss in women using large-scale population data and polygenic scores.

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.