Combining long-read DNA and RNA sequencing to enhance molecular understanding of structural variations leading to copy gains

2025/01/01 by Jade Fauqueux, Jean‐Pascal Meneboo, Roseline Caumes +8 · 1 voice
Biochemistry, Genetics and Molecular Biology · #Molecular Biology Techniques and Applications #Genomics and Phylogenetic Studies #RNA modifications and cancer

paper · doi:10.1016/j.csbj.2025.04.031

openalex publication_date 2025/01/01 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/23

Abstract

expression, with Hi-C data showing minimal impact on enhancer-promoter interactions. Due to their complexity, these SVs were not fully resolved by standard methods. By integrating LRS with transcriptomic and chromosomal conformation analyses, we provided a comprehensive understanding of SV formation and its pathogenic impact. Our findings emphasize the need for advanced genomic approaches to resolve complex SVs, enhance diagnostic accuracy, and inform clinical management.

Citations

• Long-read human genome sequencing and its applications
• A genomic mutational constraint map using variation in 76,156 human genomes

Discussions

• 🧬 Can advanced sequencing technologies bring clarity to genetic variants once deemed uncertain? 🔗 Combining long-read DNA and RNA sequencing to enhance molecular understanding of structural variati [bsky, 1 points, 0 comments]

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