Manuela Gago-Domínguez

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

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 identifies genetic signals associated with age at menarche, highlights genes involved in pubertal development, and links reproductive timing to later life disease risk.

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

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.

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.

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

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