Sonja I. Berndt

Germline polygenic score for prostate cancer aggressiveness

This paper develops a germline polygenic score (PRSagg) to predict prostate cancer aggressiveness and validates it across multiple datasets.

Novel Genetic Risk Loci for Pancreatic Ductal Adenocarcinoma Identified in a Genome-wide Study of African Ancestry Individuals

This study identifies novel genetic risk loci for pancreatic ductal adenocarcinoma in African ancestry individuals through admixture mapping and GWAS.

LDscore: a scalable, Python 3-powered web platform for LD score regression analysis

LDscore provides a cloud-based, Python 3 web platform for LDSC analysis, improving accessibility and scalability for heritability and genetic correlation studies.

Transcriptome-Wide Association Analysis Identifies Novel Candidate Susceptibility Genes for Prostate-Specific Antigen Levels in Men Without Prostate Cancer

Admix-kit: An Integrated Toolkit and Pipeline for Genetic Analyses of Admixed Populations

Admix-kit provides tools for genetic analysis of admixed populations, enabling simulation, association testing, and polygenic scoring.

FORGEdb: a tool for identifying candidate functional variants and uncovering target genes and mechanisms for complex diseases.

FORGEdb integrates genomic annotations to prioritize functional variants and target genes for complex diseases.

Genome-wide association study of prostate-specific antigen levels in 392,522 men identifies new loci and improves cross-ancestry prediction

This study identifies 447 new genetic variants associated with prostate-specific antigen levels across multiple ancestries and shows improved cross-ancestry prediction of PSA, with implications for personalized prostate cancer screening.

Genetically Adjusted PSA Levels for Prostate Cancer Screening

This study develops a polygenic score to adjust PSA levels, improving the detection of aggressive prostate cancer while reducing unnecessary biopsies.

Selection, optimization, and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse populations

The paper selects and validates ten polygenic risk scores for clinical use in diverse populations, focusing on chronic diseases and addressing disparities in predictive performance.

Combining Asian-European Genome-Wide Association Studies of Colorectal Cancer Improves Risk Prediction Across Race and Ethnicity

This study improves polygenic risk scores for colorectal cancer by combining Asian and European ancestry data, enhancing risk prediction across diverse racial and ethnic groups.

Prostate cancer risk stratification improved across multiple ancestries with new polygenic hazard score

The paper improves prostate cancer risk stratification across multiple ancestries using a new polygenic hazard score with additional SNPs, showing higher hazard ratios and positive predictive value for clinically significant prostate cancer.

Genetic architectures of proximal and distal colorectal cancer are partly distinct

This study identifies 13 new genetic loci specific to proximal or distal colorectal cancer subtypes, revealing partly distinct genetic architectures for these tumor locations.

Polygenic hazard score is associated with prostate cancer in multi-ethnic populations

This study evaluates a polygenic hazard score in multi-ethnic populations and finds it is associated with age at prostate cancer diagnosis, aggressive diagnosis, and death across European, Asian, and African ancestries.

Additional SNPs improve the performance of a polygenic hazard score for prostate cancer

This study improves a polygenic hazard score for prostate cancer by adding 120 SNPs, enhancing hazard ratios but not positive predictive value of PSA testing.

Assessment of Polygenic Architecture and Risk Prediction based on Common Variants Across Fourteen Cancers

This study assesses polygenicity and risk prediction using common variants across 14 cancers, finding varying numbers of susceptibility variants and risk score effectiveness.

Physical activity and risks of breast and colorectal cancer: A Mendelian randomization analysis

This study uses Mendelian randomization to show that higher physical activity levels are associated with lower risks of breast and colorectal cancer.

Shared heritability and functional enrichment across six solid cancers

This study quantifies genetic correlations between six solid cancers and other diseases using GWAS data, finding shared heritability and functional enrichment in regulatory regions.

The role of glycaemic, lipid, blood pressure and obesity risk factors as mediators of the effect of height on Coronary Artery Disease and Type 2 Diabetes Mellitus: A Mendelian Randomisation Study.

This paper uses Mendelian Randomisation to show that height reduces coronary artery disease risk independently of BMI, lipid, and blood pressure, but has no direct effect on type 2 diabetes risk after adjusting for BMI.

Large-scale transcriptome-wide association study identifies new prostate cancer risk regions

This study integrates a large prostate cancer GWAS with gene expression data to identify 235 genes associated with risk, prioritizing causal genes through Bayesian credible sets.

Narrow-sense heritability estimation of complex traits using identity-by-descent information.

This paper estimates narrow-sense heritability using identity-by-descent information in unrelated individuals and finds that IBD-based methods can capture rare variant contributions but are affected by stratification.