🧬 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 variations leading to copy gains. Computational and Structural Biotechnology Journal, DOI: https://doi.org/10.1016/j.csbj.2025.04.031

📚 CSBJ: https://www.csbj.org/

#Genomics #StructuralVariants #LongReadSequencing #RareDisease #PrecisionMedicine #RNAseq #Nanopore #GeneticDiagnostics #NanoporeSequencing #Transcriptomics

A new study examined data from over 1,500 people affected by #RareDiseases. Using #AI, scientists identified 34 previously unknown diseases: http://go.tum.de/912370 🧬

#Genetics #GeneticDiagnostics

📷J.Eberle