Michael A. Silk

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.

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

The paper shows that using structure-based predictors of intolerance improves the identification of pathogenic variants in whole exome sequences of patients with developmental and epileptic encephalopathies.

The paper presents a web resource, COVID-3D, that visualizes SARS-CoV-2 genetic variation in 3D structures to aid in understanding its impact on infection, immunity, and drug development.