Long-read sequencing of human tissues to study allelic effects on transcriptome structure

Dafni and her team used long-read PCR-cDNA nanopore sequencing to sequence 70 human RNA samples across 15 tissues – the largest human long-read cDNA dataset produced to-date. The long nanopore reads enabled quantitative analysis of isoform expression, and revealed widespread allele-specific transcript structure events. Using the FLAIR pipeline, Dafni and her team identified around 100,000 putative novel transcripts for known genes and around 200 novel genes.