Xueling Sim

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.

High-throughput plasma proteomic platforms: Insights from a multi-ethnic Asian cohort

The paper compares three proteomic platforms in a multi-ethnic Asian cohort, finding limited overlap, platform-specific performance metrics, and ethnicity-related protein differences.

Scaling Precision Medicine: Singapore's PRECISE-SG100K Genomic Engine

The paper describes the development of a national genomic infrastructure in Singapore to scale precision medicine, achieving high throughput and operational efficiency in genome sequencing.

Nuclear regulatory disturbances precede and predict the development of Type-2 diabetes in Asian populations

The paper identifies DNA methylation biomarkers predictive of Type-2 diabetes in Asian populations and shows their utility in risk stratification.

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.

Genome-Wide Interaction Analysis with DASH Diet Score Identified Novel Loci for Systolic Blood Pressure

The paper identifies novel genetic loci associated with systolic blood pressure that interact with the DASH diet score through genome-wide interaction analysis.

An atlas of genetic scores to predict multi-omic traits

The paper develops genetic scores for 17,227 molecular traits using multi-omic data from INTERVAL and validates them across ancestries, demonstrating their utility in pathway analysis and disease association discovery.

RAPTOR: A Five-Safes approach to a secure, cloud native and serverless genomics data repository

RAPTOR provides a secure, cloud-native genomics repository with a five-safes framework to ensure compliance and data protection for genomic research.

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.

Breast cancer risks associated with missense variants in breast cancer susceptibility genes

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.

Analyses of Biomarker Traits in Diverse UK Biobank Participants Identify Associations Missed by European-centric Analysis Strategies

The paper identifies novel genetic associations for biomarker traits in non-European UK Biobank populations, highlighting missed signals in European-centric analyses.

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.

The Trans-Ancestral Genomic Architecture of Glycaemic Traits

This study identifies 242 genetic loci for glycaemic traits using trans-ancestry meta-analysis, finding 99 novel loci and improved fine-mapping resolution compared to single-ancestry analyses.

Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

The paper identifies genetic variants and transcripts associated with glycemic traits by analyzing exome-array data from 144,600 individuals, highlighting tissue-specific roles in glucose regulation.