Katrina M. de Lange

Impact of Rare and Common Genetic Variation on Cell Type-Specific Gene Expression

Single-cell eQTL mapping in 5.4 million PBMCs from 1,925 individuals with matched WGS finds common-variant eQTLs for 83% and rare-variant signals for 47% of 21,404 genes.

Tandem repeat variation shapes immune cell type-specific gene expression

The paper identifies immune cell type-specific gene expression regulated by tandem repeats using multi-omics data from large cohorts.

Single-cell genetics identifies cell-type-specific effector genes across complex traits and diseases

The paper uses single-cell eQTL data to identify cell-type-specific effector genes associated with 69 diseases and 31 biomarker traits, revealing distinct immune cell contributions to disease.

Genetic regulation of cell type-specific chromatin accessibility shapes immune function and disease risk

The paper maps chromatin accessibility and genetic variation in immune cells, showing how integrating cell-type-specific data improves disease risk understanding.

Exome sequencing and genotyping identify a rare variant in NLRP7 gene associated with ulcerative colitis.

The paper identifies a rare variant in the NLRP7 gene associated with increased risk of ulcerative colitis through exome sequencing and genotyping in IBD families and cohorts.