Leveraging Long Reads Sequencing for Developing a Functional Iso-Transcriptomics Analysis Framework

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A functional iso‑transcriptomics pipeline (FIT) combines SQANTI curation of long‑read (PacBio/Nanopore) transcripts, IsoAnnot annotation of RNA/protein features, and tappAS statistical analysis; SQANTI computes up to 50 quality properties and applies a rescue + machine‑learning filter that raises sensitivity and precision; comparisons show most transcripts are reported by only one pipeline, PFAM coverage reaches ~70% with >50% genes showing domain differences, and case studies (cadherin delta‑1 NLS; Mul‑1 binding domain) validate predicted functional switches.

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" chapters (13)

1. 0:00Start
2. 1:08Long-reads do reveal transcriptome complexity
3. 1:51And what about understanding function of isoforms?
4. 2:42Introducing Functional Iso-Transcriptomics analysis
5. 5:07CAGE and PolyA support
6. 9:07Limited overlap in detection across pipelines
7. 12:07Assessing the novelty
8. 14:07CAGE data may support FSM!
9. 16:50Rich functional Annotation of isoforms with IsoAnnot
10. 17:53Functional diversity of isoforms
11. 23:17Ctnnd1: Isoform switch regulating protein localization
12. 25:11Differential PolyAdenylation Analysis (DPA)
13. 25:38Concluding remarks