Long-read transcriptome sequencing reveals allele-specific variants at high resolution

Abstract

Disturbance in the regulation of transcript structure plays a crucial role in human disease. In a recent study, Glinos et al. characterized allele-specific transcript alterations in long-read RNA sequencing (RNA-seq) data derived from multiple human tissues and provide a high-resolution view of how disease-associated genetic variants affect transcript structure.

Keywords: allele-specific expression; allele-specific transcript structure; heterozygous genetic variants; long-read RNA sequencing.