Uncovering isoform landscapes in neurodevelopment and autism: a multiomic approach with long-read sequencing

Human neuron development depends on precise regulation of gene expression, but existing methods cannot completely capture the diversity of transcripts and proteins expressed during development. This gap in understanding limits our ability to fully interpret genetic variants and their functional consequences in neurodevelopmental disorders such as autism.

In this webinar, hear about research from the University of Toronto that harnessed PacBio full-length RNA sequencing as part of a multiomic approach to uncover a rich landscape of novel spliced isoforms, many of which are translated into proteins. Discover how analysis of whole-genome sequencing (WGS) data from autism spectrum disorder (ASD) cohorts revealed variants that have a stronger functional impact than previously understood, highlighting the importance of isoform-centric analyses for understanding neurodevelopment.

Watch the recording to:

Understand the unique advantages of PacBio full-length RNA sequencing compared to other technologies.
See how long-read RNA-seq can be incorporated into a multiomic approach to understand neuron development and identify variants relevant to disease biology.
Learn how researchers incorporate different long-read bioinformatics tools to identify biologically relevant isoforms.

SPEAKERS