Ricardo De Paoli-Iseppi from the University of Melbourne in Australia spoke about the “Discovery of novel neuropsychiatric disorder risk-gene transcripts in the human brain” as part of London Calling 2023. They explained that different isoforms can lead to disease states. They extracted RNA from healthy control tissues and postmortem brain tissue. The team used long-read sequencing after preparing samples with the LSK-109/110 and PCB-096 kits. Sequencing was performed on the GridION. The team used a custom pipeline for analysis. They analyzed with Bambu and IsoViz. The results suggested 929 novel isoforms were found. The team found over 100 novel splice sites. A variety of novel exons were discovered. Some novel exons contained a premature termination codon. Highly expressed novel isoforms were found. For example, the NEGR1 gene had novel exons that were confirmed by PCR and Sanger sequencing. In conclusion, De Paoli-Iseppi identified 775 novel isoforms in healthy control human brain samples. I want to learn more about their methods of multiplexing samples so that we can try them.
