Uploaded November 2025 | Updated September 2026, 1 day ago
At PacBio PRISM, Colette Felton of UC Santa Cruz explains how long-read RNA sequencing offers a more complete picture of cancer gene alterations. Discover how FLAIR3, an advanced analysis tool, leverages high-quality long reads to integrate the analysis of SNVs, gene fusions, and alternative splicing, enabling a more accurate functional interpretation of tumor-specific variants.
This presentation contrasts the fragmented view from short-read sequencing with the comprehensive insights from long reads, which can link genetic variants directly to their full-length isoforms. Felton details how high-accuracy data from technologies like the PacBio Iso-Seq method is essential for this level of analysis. The talk highlights findings from osteosarcoma and lung adenocarcinoma studies, revealing how alternative splicing modulates the expression and function of oncogenic variants. See examples where long reads identified a KEAP1 deletion missed by short reads and clarified that a BRAF V600E variant was expressed exclusively on a single isoform, enriching our understanding of variant impact.
00:00 Introduction: Splicing of tumor-specific variants
01:19 The "Blind Men and the Elephant" cancer analogy
02:58 The FLAIR tool for isoform analysis
04:16 Why high-quality sequencing data is essential
07:11 FLAIR3: Integrated fusion and variant detection
09:34 Case study 1: Osteosarcoma drivers
11:46 Identifying novel TP53 and KEAP1 alterations
13:42 Case study 2: Lung cancer with PacBio Iso-Seq
15:24 Linking the BRAF V600E variant to a splice isoform
16:37 Analyzing variants in TP53 and CDKN2A
19:44 Conclusion: Seeing the whole elephant with long reads
Subscribe for more insights from PacBio: youtube.com/@PacificBiosciences?sub_confirmation=1
Learn more about PacBio at pacb.com
Legal & Trademarks: Visit pacb.com/legal-and-trademarks
At PacBio PRISM, Colette Felton of UC Santa Cruz explains how long-read RNA sequencing offers a more complete picture of cancer gene alterations. Discover how FLAIR3, an advanced analysis tool, leverages high-quality long reads to integrate the analysis of SNVs, gene fusions, and alternative splicing, enabling a more accurate functional interpretation of tumor-specific variants.
This presentation contrasts the fragmented view from short-read sequencing with the comprehensive insights from long reads, which can link genetic variants directly to their full-length isoforms. Felton details how high-accuracy data from technologies like the PacBio Iso-Seq method is essential for this level of analysis. The talk highlights findings from osteosarcoma and lung adenocarcinoma studies, revealing how alternative splicing modulates the expression and function of oncogenic variants. See examples where long reads identified a KEAP1 deletion missed by short reads and clarified that a BRAF V600E variant was expressed exclusively on a single isoform, enriching our understanding of variant impact.
00:00 Introduction: Splicing of tumor-specific variants
01:19 The "Blind Men and the Elephant" cancer analogy
02:58 The FLAIR tool for isoform analysis
04:16 Why high-quality sequencing data is essential
07:11 FLAIR3: Integrated fusion and variant detection
09:34 Case study 1: Osteosarcoma drivers
11:46 Identifying novel TP53 and KEAP1 alterations
13:42 Case study 2: Lung cancer with PacBio Iso-Seq
15:24 Linking the BRAF V600E variant to a splice isoform
16:37 Analyzing variants in TP53 and CDKN2A
19:44 Conclusion: Seeing the whole elephant with long reads
Subscribe for more insights from PacBio: youtube.com/@PacificBiosciences?sub_confirmation=1
Learn more about PacBio at pacb.com
Legal & Trademarks: Visit pacb.com/legal-and-trademarks
