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DACs
EGAC00001002852
Single cell multi-omics group for somatic structural variation in human blood lineages
Contact Information
Daniel Nowak
daniel.nowak@medma.uni-heidelberg.de
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This DAC controls 1 dataset
Dataset ID
Description
Technology
Samples
EGAD00001009402
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 based on Strand-seq technology, we explored the mSV landscape of human hematopoietic stem and progenitor cells (HSPCs).
NextSeq 500
1133