Article
De novo detection of somatic variants in high-quality long-read single-cell RNA sequencing data.
Genome research - 14 Apr 2025
Dondi Arthur, Borgsmüller Nico, Ferreira Pedro F, Haas Brian J, Jacob Francis, Heinzelmann-Schwarz Viola, Beerenwinkel Niko
Abstract excerpt
In cancer, genetic and transcriptomic variations generate clonal heterogeneity, leading to treatment resistance. Long-read single-cell RNA sequencing (LR scRNA-seq) has the potential to detect genetic and transcriptomic variations simultaneously. Here, we present LongSom, a computational workflow leveraging high-quality LR scRNA-seq data to call de novo somatic single-nucleotide variants (SNVs), including in...
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