Statistical Genetics

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

Genome-wide association studies (GWAS) have identified over 170 common breast cancer susceptibility variants using standard GWAS methods. Many of these variants have differential associations by estrogen receptor (ER), but how these variants relate …

Multi-anestry polygenic risk predictions

Polygenic risk scores are useful for predicting various phenotypes; however, most PRS are developed using predominately European ancestry data, their performance in non-European populations is often poorer. To improve PRS performance in non-European populations, we propose a new method, which takes advantage of both existing large GWAS from European populations and smaller GWAS from non-European populations.

Testing for genetic association association and building risk prediction models for cancer incorporating tumor characteristics

Breast cancer represents a heterogeneous group of diseases with different molecular and clinical features. Thus, clarifying potential heterogeneous associations between genes and disease subtypes offers a tremendous opportunity to characterize distinct etiological pathways. I proposed several new computational and statistical approaches to develop powerful genetic associations tests.

Methods for developing ancestry specific polygenic risk scores

Robust Mendelian randomization analysis with weak instruments

Assessment of polygenic architecture and risk prediction based on common variants across fourteen cancers

Genome-wide association studies (GWAS) have led to the identification of hundreds of susceptibility loci across cancers, but the impact of further studies remains uncertain. Here we analyse summary-level data from GWAS of European ancestry across …

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

Breast cancer susceptibility variants frequently show heterogeneity in associations by tumor subtype. To identify novel loci, we performed a genome-wide association study including 133,384 breast cancer cases and 113,789 controls, plus 18,908 BRCA1 …

A mixed-model approach for powerful testing of genetic associations with cancer risk incorporating tumor characteristics

Cancers are routinely classified into subtypes according to various features, including histopathological characteristics and molecular markers. Previous genome-wide association studies have reported heterogeneous associations between loci and cancer …

A mixed-model approach for powerful testing of genetic associations with cancer risk incorporating tumor characteristics

A mixed-model approach for powerful testing of genetic associations with cancer risk incorporating tumor characteristics