Organoids are systems derived from pluripotent stem cells at the interface between
traditional monolayer cultures and in vivo animal models. The structural and functional …

Single-cell genomics is a powerful tool for studying heterogeneous tissues such as the
brain. Yet little is understood about how genetic variants influence cell-level gene …

Massively parallel reporter assays (MPRAs) are powerful tools for quantifying the impacts of
sequence variation on gene expression. Reading out molecular phenotypes with …

The human genome contains millions of candidate cis-regulatory elements (cCREs) with cell-
type-specific activities that shape both health and many disease states. However, we lack a …

Nucleotide variants in cell type–specific gene regulatory elements in the human brain are
risk factors for human disease. We measured chromatin accessibility in 1932 aliquots of …

The increasing development of sequence-based machine learning models has raised the
demand for manipulating sequences for this application. However, existing approaches to …

The human genome is largely noncoding, yet the field is still gras** to understand how
noncoding variants impact transcription and contribute to disease etiology. The massively …

Functional analysis of non-coding variants associated with congenital disorders remains
challenging due to the lack of efficient in vivo models. Here we introduce dual-enSERT, a …

While context-type-specific regulation of genes is largely determined by cis-regulatory
regions, attempts to identify cell type-specific eQTLs are complicated by the nested nature of …

Evolutionary medicine, which integrates evolutionary biology and medicine, significantly
enhances our understanding of human traits and disease susceptibility. However, previous …