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Single cell multi-omics group for somatic structural variation in human blood lineages

ABSTRACT: Data Access Committee EGAC00001002852

PROVIDER: EGAC00001002852 | EGA |

REPOSITORIES: EGA

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Deciphering somatic mosaic structural variation in human blood lineages using single-cell multiomics

Project description: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).

| EGAS00001006567 | EGA