LAUSR

Somatic structural variations (SVs) underlie diseases such as cancer. While analysis of bulk DNA sequencing data allows SV detection, single-cell sequencing has the potential to characterize somatic SVs at higher resolution. Despite this conceptual appeal, various technical difficulties must be overcome. Strand-seq is a method that enables chromosome-length haplotype phasing of single nucleotide polymorphisms. Taking advantage of data generated by Strand-seq, Sanders et al. developed scTRIP, a computational approach for identifying SVs in single cells. scTRIP detects and distinguishes different SV classes by their characteristic diagnostic footprints and enables detection of complex DNA rearrangements consisting of adjacent SVs on the same haplotype. The authors used scTRIP to discover SVs in transformed retinal pigment epithelium cells and leukemic samples. The tool not only reveals abundant SV classes such as translocations and inversions, but also complex DNA rearrangements such as breakage–fusion–bridge cycles. LT*