Neeme Tõnisson

This study validates FF-enriched GW-NIPT for detecting 1 Mb CNVs with high performance across BMI groups and low failure rates.

The paper evaluates a genetic risk-based breast cancer screening model in younger women, showing its feasibility, clinical utility, and acceptability.

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

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

The paper develops a polygenic risk score-based pipeline to provide personalized recommendations for melanoma prevention by integrating genetic risk with health behavior.

This paper constructs a polygenic risk score (PRS) model for prostate cancer risk prediction and develops personalized screening recommendations using population-specific data.

This paper develops a sex-specific polygenic risk score model for colorectal cancer screening, showing it can stratify risk and inform individualized screening recommendations.

The paper revalidates a polygenic risk score (PRS) model for breast cancer risk prediction and develops a pipeline for individualized screening recommendations using population-specific data.

This paper compares genetic risk scores for breast cancer, finding that a combined metaGRS2 provides the strongest predictive ability in two cohorts.

The paper validates a whole-genome sequencing-based NIPT method and software for detecting fetal aneuploidies in Estonia, showing high accuracy for common trisomies but some false positives and detection issues with low fetal fraction.