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Finding structural variation from the human skin fibroblast at the single-cell level

Somatic structural variants (SVs) are widespread in cancer, but their impact on disease evolution is understudied due to a lack of methods to directly characterize their molecular consequences. We present a computational method, scNOVA, that integrates haplotype-resolved SV discovery with nucleosome occupancy analysis using Strand-seq, to functionally characterize SVs in single cells.

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Dataset ID Description Technology Samples
EGAD00001009307 NextSeq 500 95
Publications Citations
Functional analysis of structural variants in single cells using Strand-seq.
Nat Biotechnol 41: 2023 832-844