Systematic evaluation of the impact of genetic variants is critical for the study and treatment
of human physiology and disease. While specific mutations can be introduced by genome …

The human blood system is maintained through the differentiation and massive amplification
of a limited number of long-lived haematopoietic stem cells (HSCs). Perturbations to this …

Single-cell and spatial molecular profiling assays have shown large gains in sensitivity,
resolution and throughput. Applying these technologies to specimens from human and …

Advances in single-cell RNA sequencing (scRNA-seq) techniques have accelerated
functional interpretation of disease-associated variants discovered from genome-wide …

Age-related macular degeneration (AMD) is a leading cause of blindness, affecting 200
million people worldwide. To identify genes that could be targeted for treatment, we created …

Prioritizing disease-critical cell types by integrating genome-wide association studies
(GWAS) with functional data is a fundamental goal. Single-cell chromatin accessibility …

Uveal melanoma (UM) is the most frequent primary intraocular malignancy with high
metastatic potential and poor prognosis. Macrophages represent one of the most abundant …

Advances in single-cell technology have enabled molecular dissection of heterogeneous
biospecimens at unprecedented scales and resolutions. Cluster-centric approaches are …

Diabetes is the leading cause of kidney disease that progresses to kidney failure. However,
the key molecular and cellular pathways involved in diabetic kidney disease (DKD) …

Background COVID-19 infections could be complicated by acute respiratory distress
syndrome (ARDS), increasing mortality risk. We sought to assess the methylome of …