Tiit Nikopensius

From Biobanking to Personalized Medicine: the journey of the Estonian Biobank

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

High incidence and geographic distribution of cleft palate cases in Finland are associated with a regulatory variant in IRF6

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

Genotype-first approach to the detection of hereditary breast and ovarian cancer risk, and effects of risk disclosure to biobank participants

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

Advantages of genotype imputation with ethnically matched reference panel for rare variant association analyses

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.