YL Lau

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with critical COVID-19

The paper identifies rare loss-of-function variants in type I IFN immunity genes associated with severe COVID-19, particularly in younger patients with recessive inheritance.

Human Germline Heterozygous Gain-of-Function STAT6 Variants Cause Severe Allergic Disease

This study identifies heterozygous gain-of-function STAT6 variants in two patients with severe allergic disease and shows JAK inhibitors reduce the enhanced STAT6 responses.

Region- and variance-based DNA methylation analyses reveal novel disease genes and pathways for systemic lupus erythematosus

The paper identifies disease genes and pathways in systemic lupus erythematosus by analyzing DNA methylation differences in blood cells, finding distinct patterns in T and B cells.

Identification of 38 novel loci for systemic lupus erythematosus and genetic heterogeneity that may underly population disparities in this disease

This study identifies 38 novel SLE loci and shows genetic heterogeneity across ancestral groups, highlighting antibody production as a potential mechanism for disease disparities.

RETA: An R Package For Whole Exome And Targeted Region Sequencing Data Analysis

RETA is an R package that simplifies whole exome and targeted region sequencing data analysis by providing a comprehensive, interactive report with advanced visualization tools.