Hands on training in long‑read single‑cell RNA‑seq, from experimental design to data interpretation

#LRUA26: Empower your research with long-read sequencing technologies and connect with experts, peers, and industry leaders in Uppsala this November.

Long-read sequencing enables comprehensive transcriptome characterization but remains challenging to benchmark due to sequencing errors, sample variability, and the limited scope of existing evaluatio...

European Journal of Human Genetics - HiFi long-read RNA sequencing enhances clinical diagnostics in rare disorders

Transcript discovery and quantification for long read single cell and spatial transcriptomics data using Bambu - GoekeLab/bambu-pipe

Structural variants (SVs) can disrupt gene function and contribute to pathogenesis of rare disorders. Here, we created a genome-wide knockout dataset across 125,730 individuals with genome sequencing ...

RNA sequencing (RNA-Seq) is increasingly used alongside exome and genome sequencing to identify causal variants underlying rare Mendelian disorders. We present short-read RNA-Seq data from 5,412 indiv...

Long-read RNA sequencing (lrRNA-seq) has revolutionized transcriptomics facilitating the study of alternative splicing and resulting in identification of thousands of novel transcripts. While isoform ...