Using more than 500,000 unstimulated memory T cells from 259 Peruvian individuals, we show that around one-third of 6,511 cis-eQTLs had effects that were mediated by continuous multimodally defined cell states, such as cytotoxicity and regulatory capacity. In some loci, independent eQTL variants...
Cells, as the fundamental units of life, contain multidimensional spatiotemporal information. Single-cell RNA sequencing (scRNA-seq) is revolutionizing biomedical science by analyzing cellular state and intercellular heterogeneity. Undoubtedly, single-cell transcriptomics has emerged as one of the most vibra...
eQTLNucSeqsingle cellRNA-seqage-related macular degenerationAMDretinal pigment epitheliumretinaGWASAge-related macular degeneration (AMD) is a leading cause of vision loss. To better understand disease pathogenesis and identify causal genes in GWAS loci for AMD risk, we present a comprehensive database...
Cells, as the fundamental units of life, contain multidimensional spatiotemporal information. Single-cell RNA sequencing (scRNA-seq) is revolutionizing biomedical science by analyzing cellular state and intercellular heterogeneity. Undoubtedly, single-cell transcriptomics has emerged as one of the most vibra...
To address this question, we profile gene expression and chromatin accessibility in cells from healthy retinae of 20 human donors through single-cell multiomics and genomic sequencing. Results We map eQTL, caQTL, allelic-specific expression, and allelic-specific chromatin accessibility in major retinal...
Here, we present the Single Cell Atlas (SCA), a single-cell multi-omics map of human tissues, through a comprehensive characterization of molecular phenotypic variations across 125 healthy adult and fetal tissues and eight omics, including five single-cell (sc) omics modalities, i.e., scRNA-se...
A primary challenge in single-cell RNA sequencing (scRNA-seq) studies comes from the massive amount of data and the excess noise level. To address this challenge, we introduce an analysis framework, named single-cell Decomposition using Hierarchical Auto
With emergence of single-cell biology and adaptation of various sequencing-based omics technologies, the study of chromatin accessibility at single cell resolution became possible owing to the development of single-cell ATAC sequencing (scATAC-seq). However, computational analysis of scATAC-seq data ...
To profile the activity of gene regulatory elements in diverse cell types and tissues in the human body, we applied single-cell chromatin accessibility assays to 30 adult human tissue types from multiple donors. We integrated these datasets with previous single-cell chromatin accessibility data from ...
Systematic characterization of how genetic variation modulates gene regulation in a cell type-specific context is essential for understanding complex traits. To address this question, we profile gene expression and chromatin accessibility in cells