Single-cell splicing QTL analysis in pancreatic islets.

ABSTRACT:

Introduction

Alternative splicing (AS) of mRNAs is a highly conserved mechanism which can greatly expand the functional diversity of the transcriptome. Aberrant splicing underpins many diseases, and a better understanding of AS can provide insights regarding the molecular mechanisms involved. Importantly, AS can be affected by genetic variants and several studies have indicated large numbers of splicing quantitative trait loci (sQTL). With the advance of single-cell technology, expression QTL studies have been expanded to identify cell type level variants.

Methods

We collected eight full-length scRNA-seq pancreatic islet datasets. Genotyping for each individual was done by the CTAT pipeline and Streka2. The isoform quantification was done by RSEM. Finally, sQTL was obtained

SUBMITTER: Cho JW 

PROVIDER: S-EPMC12457394 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature