John Campbell Chambers

This study investigates how menopause alters Malassezia fungal populations on skin and their impact on inflammation and skin health in Asian women.

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

The paper analyzes over 800,000 human genomes to assess penetrance of clinically relevant variants, finding that 95% of pLoF variants in severe diseases have explanations for lack of disease manifestation.

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

The paper identifies USP18 as a negative regulator of interferon response at a lupus risk locus through trans-eQTL analysis in lymphoblastoid cell lines.

The paper presents a high-quality, gapless diploid reference genome for an Indian population, revealing extensive structural variation and improved performance for genomic analysis in South Asian samples.

The paper identifies prevalent skin microbiome configurations (dermotypes) across body sites and links them to host factors and disease risk.

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.

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

The paper presents AIDA, a diverse single-cell RNA-seq atlas of immune cells, revealing sub-continental diversity impacts on immune cell properties and identifying functional genetic variants.

Rare-variant depletion in 1kb windows of 76,156 gnomAD genomes, versus feature-adjusted mutation expectations, marks regulatory elements and outperforms seven alternative scores at flagging functional non-coding variants.

The paper develops a method to infer compound heterozygosity from exome sequencing data, achieving high accuracy in phasing rare variants for recessive disease diagnosis.

This study identifies DNA methylation changes associated with extreme obesity and finds causal effects on obesity and metabolic disturbances using Mendelian Randomisation.

The paper reconstructs regulatory networks underlying trans-QTL hotspots using human multi-omics data and biological priors, identifying novel networks related to schizophrenia and lean body mass.

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

This study identifies 400+ genetic loci associated with circulating metabolic traits and highlights pleiotropy and novel disease pathways.

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 paper evaluates potential drug targets using loss-of-function genetic variants from gnomAD, highlighting the importance of deep curation and targeted recall studies for drug discovery.

From 125,748 exomes and 15,708 genomes, 443,769 high-confidence predicted loss-of-function variants yield LOEUF, a continuous gene intolerance score tracking mouse lethality, cell essentiality, and disease associations.

The paper develops an expression-based annotation metric to improve rare variant interpretation by filtering false-positive loss-of-function variants and identifying pathogenic variants in highly expressed exons.

Short-read genome sequencing of 14,891 diverse genomes yields 433,371 structural variants (SVs) for gnomAD; loss-constrained genes also resist duplication, and clinical SV carrier rates are benchmarked.

The paper analyzes loss-of-function variants in LRRK2 across large genomic datasets to assess the safety of partial LRRK2 inhibition as a Parkinson's disease therapy.

The paper systematically studies uORF variants in 15,708 genomes, showing they are under strong negative selection and contribute to disease.

The paper analyzes multi-nucleotide variants (MNVs) in 125,748 exomes and 15,708 genomes, identifying their distribution, mutational origins, and functional implications.

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

This study presents whole-genome sequencing data from 4,810 Singaporeans across three ethnic groups, revealing genetic structure, admixture, and improved imputation for Asian and Oceanian populations.

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.

The paper identifies genetic variants associated with heart failure by analyzing histone acetylation QTLs in human heart tissue.

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.