Tiit Nikopensius

The paper reviews the Estonian Biobank's role in advancing genomics research and personalized medicine through its comprehensive data and translational focus.

The paper identifies a regulatory variant in IRF6 associated with increased cleft palate risk in Finland and shows it disrupts IRF6 enhancer function.

The paper evaluates a genotype-first approach for identifying BRCA1/2 variant carriers in a biobank cohort and assesses the impact of risk disclosure.

This study compares the effectiveness of ethnically matched and mixed reference panels for imputing rare variants in GWAS, showing improved detection of rare variant associations with matched panels.