Profiling of the full-length transcriptome in abdominal aortic aneurysm using nanopore-based direct RNA sequencing

Area of Science:

• Genomics
• Molecular Biology
• Bioinformatics

Background:

• Abdominal aortic aneurysm (AAA) is a significant vascular disease with high mortality.
• The genetic underpinnings of AAA remain incompletely understood.
• Elucidating AAA molecular mechanisms is crucial for improving patient outcomes.

Purpose of the Study:

• To investigate the transcriptome profile of AAA using Oxford Nanopore Technologies (ONT).
• To identify novel transcripts, genes, and molecular mechanisms involved in AAA pathogenesis.
• To assess the suitability of ONT for comprehensive transcriptomic analysis in AAA.

Main Methods:

• Full-length transcriptome sequencing using the ONT MinION platform.
• Analysis of novel transcripts, alternative splicing, and polyadenylation events.
• Differential gene expression analysis and KEGG pathway enrichment.

Main Results:

• Identification of 9574 novel transcripts and 781 novel genes associated with AAA.
• Characterization of alternative splicing, alternative polyadenylation, and SSR loci.
• Detection of 7044 differentially expressed transcripts (DETs), with 4278 upregulated and 2766 downregulated.
• KEGG analysis revealed 4071 annotated DETs involved in disease pathways.
• ONT demonstrated suitability for comprehensive lncRNA profiling in AAA.

Conclusions:

• The study provides a comprehensive transcriptome profile of AAA, revealing novel genetic insights.
• ONT-based transcriptomics is effective for characterizing complex molecular events in AAA.
• Findings may inform the development of personalized treatment strategies for AAA patients.