Peter Devilee

PRANA: A Deep Learning Method for Adapting Polygenic Risk Scores to Diverse Ethnic Groups

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

A novel genetic strategy to interrogate an unknown phenotypic modifier: an Sdhc KO-Robertsonian mouse with a semi-homologous chromosome develops papillary thyroid carcinoma-like tumours

This study creates a mouse model with a modified chromosome to investigate how chromosomal structure influences tumor development, finding that specific genetic and chromosomal combinations lead to thyroid tumors.

Understanding the genetic complexity of puberty timing across the allele frequency spectrum

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.

Differences in polygenic score distributions in European ancestry populations: implications for breast cancer risk prediction

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

Enhancing the BOADICEA cancer risk prediction model to incorporate new data on RAD51C, RAD51D, BARD1, updates to tumour pathology and cancer incidences.

This paper updates the BOADICEA cancer risk prediction model to include new genetic variants and continuous risk factors, improving risk reclassification for specific gene carriers.

Exome sequencing identifies novel susceptibility genes and defines the contribution of coding variants to breast cancer risk.

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.

Common variants in breast cancer risk loci predispose to distinct tumor subtypes

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

Rare copy number variants (CNVs) and breast cancer risk

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

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

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

Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes

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

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.