Decoding the human PBMC isonome: Isoform-level resolution with single-cell long-read transcriptomics.

ABSTRACT: Long-read single-cell RNA sequencing provides an opportunity to understand human health and disease at a level difficult to resolve with bulk or short-read methods. This approach enables isoform-level investigation of cellular diversity and disease mechanisms and definition of cell-types, rather than using genes alone. Using a modified, microfluidic-free PIPseq workflow and computational pipeline adapted for Oxford Nanopore long-read sequencing, we generated the largest long-read single-cell dataset of human peripheral blood mononuclear cells (PBMCs) to date. This study profiled isoform usage across immune cells, integrating marker expression and isoform discovery. We identified 128 novel isoforms from known and new genes, several with distinct cell-type-specific patterns, and characterize

SUBMITTER: Doyle PH 

PROVIDER: S-EPMC12632934 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature