Thrilled that #SAVANA is out🥳 , our method to analyse somatic SVs, allele-specific copy number aberrations (SCNAs), tumour purity & ploidy in clinical samples using #long-read sequencing @nanopore @PacBio! 😮 Comparisons of long/short reads & algorithms👇 biorxiv.org/content/10.110…
Background: detecting SVs and SCNAs in human tumours is critical to inform diagnosis, management & treatment for cancer patients. This is routinely done in clinical settings using @illumina sequencing. It is widely believed (and said) that long reads should better reconstruct SVs

We are most happy to present SComatic, an algorithm for de novo detection of somatic mutations in high-throughput single-cell data, including single-cell RNAseq and ATAC-seq. Monumental effort led by @fran_muyas biorxiv.org/content/10.110… Thread 👇 Context: detecting somatic mutations in single cells is critical to study somatic evolution, cell plasticity, cancer and clonal mosaicism. However, identifying mutations at single-cell resolution is challenging due to various types of artefacts (allelic imbalances, etc).