Uploaded September 2025 | Updated September 2026, 3 hours ago
*How can long-read RNA sequencing reveal novel isoforms critical to neurodevelopment?* This multi-omic study uses deep PacBio HiFi sequencing using the Iso-Seq method to build a new atlas of transcripts, helping to reinterpret genetic risk for autism spectrum disorder (ASD).
Using the Iso-Seq method with Kinnex kits, researchers achieved about a 40-fold increase in read depth compared with pre-Kinnex datasets. This helped create a comprehensive isoform atlas from developing human neurons. The atlas was supported by short-read splice-junction evidence and further confirmed with proteomics.
*What you’ll learn*
* Discover thousands of novel mRNA isoforms, including isoforms with protein-coding potential
* Analyze isoform switching during neuronal development
* Validate translated isoforms with mass spectrometry data
* Explore how novel isoforms can help reinterpret research-reported genetic risk in ASD
00:00 Introduction
01:22 Full-length RNA sequencing with the Iso-Seq method
03:42 Boosting throughput with Kinnex concatenation kits
06:34 Studying alternative splicing in developing neurons
11:01 Discovering an atlas of novel mRNA isoforms
14:07 Multi-omic validation with proteomics and short reads
18:56 Isoform switching during neuronal development
26:15 Long-range coordination between splicing and polyA sites
31:33 Linking novel isoforms to human disease risk
37:22 Reinterpreting autism spectrum disorder (ASD) variants
41:52 Key findings and summary
44:16 Live Q&A
What neurodevelopmental pathways could be re-evaluated with this isoform atlas? *Comment below.*
*Subscribe for more PacBio genomics content:*
youtube.com/@PacificBiosciences?sub_confirmation=1
Learn more about PacBio at pacb.com
Legal & Trademarks: pacb.com/legal-and-trademarks
#LongReadSequencing #Neuroscience #Autism
*How can long-read RNA sequencing reveal novel isoforms critical to neurodevelopment?* This multi-omic study uses deep PacBio HiFi sequencing using the Iso-Seq method to build a new atlas of transcripts, helping to reinterpret genetic risk for autism spectrum disorder (ASD).
Using the Iso-Seq method with Kinnex kits, researchers achieved about a 40-fold increase in read depth compared with pre-Kinnex datasets. This helped create a comprehensive isoform atlas from developing human neurons. The atlas was supported by short-read splice-junction evidence and further confirmed with proteomics.
*What you’ll learn*
* Discover thousands of novel mRNA isoforms, including isoforms with protein-coding potential
* Analyze isoform switching during neuronal development
* Validate translated isoforms with mass spectrometry data
* Explore how novel isoforms can help reinterpret research-reported genetic risk in ASD
00:00 Introduction
01:22 Full-length RNA sequencing with the Iso-Seq method
03:42 Boosting throughput with Kinnex concatenation kits
06:34 Studying alternative splicing in developing neurons
11:01 Discovering an atlas of novel mRNA isoforms
14:07 Multi-omic validation with proteomics and short reads
18:56 Isoform switching during neuronal development
26:15 Long-range coordination between splicing and polyA sites
31:33 Linking novel isoforms to human disease risk
37:22 Reinterpreting autism spectrum disorder (ASD) variants
41:52 Key findings and summary
44:16 Live Q&A
What neurodevelopmental pathways could be re-evaluated with this isoform atlas? *Comment below.*
*Subscribe for more PacBio genomics content:*
youtube.com/@PacificBiosciences?sub_confirmation=1
Learn more about PacBio at pacb.com
Legal & Trademarks: pacb.com/legal-and-trademarks
#LongReadSequencing #Neuroscience #Autism
