Deciphering somatic mosaic structural variation in human blood lineages using single-cell multiomics
Somatic mosaicism (SM), referring to the presence of somatic mutations in sub-populations of cells within healthy individuals, is associated with an increased risk of a variety of diseases, including cancer. Blood is at particularly high risk of SM, given its rapid turnover and functionally- heterogeneous cell-type composition. While the roles of point mutations and large-scale rearrangements in blood SM have been scrutinised in recent years, the functional impact of mosaic structural variants (mSVs) remains poorly understood. Using haplotype-resolved single-cell multi-omics, we explored the mSV landscape of human hematopoietic stem and progenitor cells (HSPCs).
- Type: Other
- Archiver: European Genome-Phenome Archive (EGA)
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Functional analysis of structural variants in single cells using Strand-seq.
Nat Biotechnol 41: 2023 832-844