Ken Sin Lo

The paper compares bulk and single-cell RNA-seq/ATAC-seq data and models to assess their impact on predicting causal genes from GWAS variants in TNFα-treated endothelial cells.

The paper identifies 560 plasma protein quantitative trait loci (pQTL) in sickle cell disease patients and links them to HbF production through Mendelian randomization.

The paper constructs a genetic reference panel for the Quebec population using whole-genome sequencing and GWAS to improve phenotype-genotype association discovery.

The paper uses CRISPR screens to identify genes and non-coding regions affecting red blood cell density, finding 17 genes and 13 regions, some novel, that regulate this trait.

This paper uses ancestral recombination graphs to impute and trace rare variants in founder populations, showing high accuracy in mutation age and regional frequency estimation.

The paper assesses the impact of CRISPR perturbations on vascular endothelial cell functions at CAD loci, identifying variants that significantly affect endothelial phenotypes.

The paper evaluates polygenic trait scores for hematological traits in sickle cell disease patients, finding limited predictive power for complications but significant associations for fetal hemoglobin.

This study identifies 5,552 blood-cell trait-variant associations across 746,667 individuals from 5 global populations, including 71 novel loci and ancestry-specific variants not found in European ancestry populations.

This study identifies 5,106 new genetic variants associated with blood cell traits using large-scale GWAS, highlighting the polygenic and monogenic basis of hematopoiesis.

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.

This study validates two genome-wide polygenic risk scores for coronary artery disease in French Canadians, showing good performance for prevalent CAD but limited utility for incident and recurrent CAD.

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.