Pre-mRNA alternative splicing is a prevalent mechanism for diversifying eukaryotic
transcriptomes and proteomes. Regulated alternative splicing plays a role in many …

Recent advancements in single-cell technologies have enabled expression quantitative trait
locus (eQTL) analysis across many individuals at single-cell resolution. Compared with bulk …

Single-nuclei RNA sequencing characterizes cell types at the gene level. However,
compared to single-cell approaches, many single-nuclei cDNAs are purely intronic, lack …

Splicing varies across brain regions, but the single-cell resolution of regional variation is
unclear. We present a single-cell investigation of differential isoform expression (DIE) …

The burden of human disease lies predominantly in polygenic diseases. Since the early
2000s, genome-wide association studies (GWAS) have identified genetic variants and loci …

The ubiquity of RNA-seq has led to many methods that use RNA-seq data to analyze
variations in RNA splicing. However, available methods are not well suited for handling …

Alternative RNA splicing is a key step in gene expression that allows generation of
numerous messenger RNA transcripts encoding proteins of varied functions from the same …

Alternate splicing events can create isoforms that alter gene function, and genetic variants
associated with alternate gene isoforms may reveal molecular mechanisms of disease. We …

Expansion of the coding and regulatory capabilities of eukaryotic transcriptomes by
alternative splicing represents one of the evolutionary forces underlying the increased …

Alternative RNA splicing is an essential mechanism linking genetic variation to human
diseases. While the signals from genome-wide association studies (GWAS) have been …