Jose Esteban Castelao

PRANA adapts polygenic risk scores to non-European populations, improving predictive accuracy by 5%-20% in South Asian, East Asian, and Ashkenazi Jewish populations.

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

The paper uses case-control data from over 400,000 women to classify BRCA1 and BRCA2 variants, finding high consistency with ClinVar annotations for 785 previously unclassified variants.

This study identifies novel genetic risk loci for COVID-19 hospitalization in admixed American populations through a large GWAS.

This study examines differences in polygenic risk score distributions across European populations and shows how country-specific calibration can improve breast cancer risk prediction.

The paper uses whole-exome sequencing data to identify novel breast cancer susceptibility genes and assess the contribution of coding variants to breast cancer risk.

The paper assesses breast cancer risks linked to rare missense variants in five susceptibility genes using logistic and mixture models, finding varying risk contributions across genes.

The paper identifies breast cancer risk variants associated with tumor subtypes and shows their differential effects on luminal and non-luminal subtypes.

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.

The paper analyzes rare copy number variants (CNVs) in breast cancer cases and controls, identifying associations with known and novel susceptibility loci.

This study identifies 32 new breast cancer susceptibility loci through GWAS, with associations varying by tumor subtype and genetic correlations among subtypes.

This study fine-maps 150 breast cancer risk regions to identify 178 high confidence target genes using genomic and functional annotations.