Maggie C.Y. Ng

Improving performance of polygenic risk scores for hypertension across two ancestry groups.

This paper compares two Bayesian methods for polygenic risk scores (PRS) for hypertension across two ancestry groups, finding improved performance with updated LD panels and functional annotations, but not equitable results between groups.

Multi-ancestry polygenic risk scores for the prediction of type 2 diabetes and complications in diverse ancestries.

This paper develops and validates multi-ancestry polygenic risk scores for type 2 diabetes prediction and complications across diverse populations.

Improving type 2 diabetes polygenic risk scores by incorporating rare, low-frequency, and population-specific variants

This paper improves type 2 diabetes polygenic risk scores by including rare and population-specific variants, showing better risk prediction in diverse populations.

Common genetic variants near SLC2A2 and glycemic response to glimepiride in the GRADE comparative effectiveness clinical trial

The paper identifies genetic variants near SLC2A2 that influence glycemic response to glimepiride in type 2 diabetes patients.

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.

The power of TOPMed imputation for the discovery of Latino enriched rare variants associated with type 2 diabetes

The paper demonstrates that TOPMed imputation improves the identification of rare variants associated with type 2 diabetes in Latino populations, leading to novel associations and better polygenic scores.

Validation of a Trans-Ancestry Polygenic Risk Score for Type 2 Diabetes in Diverse Populations

This paper develops a trans-ancestry polygenic risk score for type 2 diabetes and validates it across diverse populations to improve equitable risk prediction.

Recovery of trait heritability from whole genome sequence data

The paper estimates heritability for height and BMI using whole-genome sequence data and finds that rare variants contribute significantly to the missing heritability.

Trans-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation

This study identifies 277 T2D loci using diverse populations and improves fine-mapping to assess causal genes and mechanisms, enhancing clinical translation.

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

The paper evaluates penetrance and variable expressivity of monogenic metabolic conditions using exome data from 77,184 individuals, finding that monogenic variants have larger effect sizes than polygenic scores but low penetrance.

Identification of type 2 diabetes loci in 433,540 East Asian individuals

This paper identifies 56 new type 2 diabetes loci in 433,540 East Asian individuals through a meta-analysis of GWAS data.

PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION

This study identifies 15 common and 9 low-frequency protein-coding variants associated with body fat distribution, implicating novel genes related to lipid homeostasis and type 2 diabetes.

Genetic discovery and translational decision support from exome sequencing of 20,791 type 2 diabetes cases and 24,440 controls from five ancestries

This study identifies rare genetic variants associated with type 2 diabetes using exome sequencing of 20,791 cases and 24,440 controls, and provides a Bayesian framework to improve variant prioritization.

Progression of chronic kidney disease in African American with type 2 diabetes mellitus using topology learning in electronic medical records

This study uses EMRs and GWAS data to map CKD progression trajectories in African Americans with type 2 diabetes, identifying high-risk and low-risk pathways linked to APOL1 genotypes.