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Unlocking the secrets of structural variants in a healthy tissue

Our study explored cell-specific functional consequences and clonal expansions of mosaic structural variants in distinct hematopoietic stem and progenitor cells by utilizing advanced single-cell sequencing techniques. Our single-cell multi-omics approach paves the way for future studies to focus on the roles of somatic structural variants in aging and disease.

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Fig. 1: Karyogram depiction of mosaic structural variants identified in 19 healthy donors.


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J.O.K. and A.D.S. used ChatGPT-4 to help prepare their contribution to this Research Briefing.

This is a summary of: Grimes, K. et al. Cell-type-specific consequences of mosaic structural variants in hematopoietic stem and progenitor cells. Nat. Genet. (2024).

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Unlocking the secrets of structural variants in a healthy tissue. Nat Genet 56, 1047–1048 (2024).

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