Transcriptome variation in human tissues revealed by long-read sequencing.

ABSTRACT: Regulation of transcript structure generates transcript diversity and plays an important role in human disease^1-7. The advent of long-read sequencing technologies offers the opportunity to study the role of genetic variation in transcript structure^8-16. In this Article, we present a large human long-read RNA-seq dataset using the Oxford Nanopore Technologies platform from 88 samples from Genotype-Tissue Expression (GTEx) tissues and cell lines, complementing the GTEx resource. We identified just over 70,000 novel transcripts for annotated genes, and validated the protein expression of 10% of novel transcripts. We developed a new computational package, LORALS, to analyse the genetic effects of rare and common variants on the transcriptome by allele-specific analysis of

SUBMITTER: Glinos DA 

PROVIDER: S-EPMC10337767 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature