Chen Li

Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity

The paper performs whole exome sequencing on 44,028 British South Asians to identify gene-phenotype associations and knockout genes, finding novel links and implications for drug development.

Proteome-wide Mendelian randomization identifies candidate causal proteins for cardiovascular diseases

This study uses proteome-wide Mendelian randomization to identify 221 candidate causal proteins and 16 biomarkers for cardiovascular diseases, distinguishing between direct causes and consequences of CVD.

Identification of rare loss of function variation regulating body fat distribution

This study identifies rare loss of function variants in four genes associated with beneficial changes in body fat distribution using genome-wide and exome-sequence data from UK Biobank.

Cross-platform genetic discovery of small molecule products of metabolism and application to clinical outcomes

This study identifies genetic associations with metabolite levels across multiple cohorts and links these variants to clinical outcomes like type 2 diabetes and macular telangiectasia type 2.

Genome-wide scan and fine-mapping of rare nonsynonymous associations implicates intracellular lipolysis genes in fat distribution and cardio-metabolic risk

This study identifies rare variant associations with fat distribution and cardio-metabolic risk, implicating intracellular lipolysis genes in these traits.