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Article

Cell-type-specific consequences of mosaic structural variants in hematopoietic stem and progenitor cells.

Nature genetics - 1 Jun 2024

Grimes Karen, Jeong Hyobin, Amoah Amanda, Xu Nuo, Niemann Julian, Raeder Benjamin, Hasenfeld Patrick, Stober Catherine, Rausch Tobias, Benito Eva, Jann Johann-Christoph, Nowak Daniel, Emini Ramiz, Hoenicka Markus, Liebold Andreas, Ho Anthony, Shuai Shimin, Geiger Hartmut, Sanders Ashley D, Korbel Jan O

Abstract excerpt

The functional impact and cellular context of mosaic structural variants (mSVs) in normal tissues is understudied. Utilizing Strand-seq, we sequenced 1,133 single-cell genomes from 19 human donors of increasing age, and discovered the heterogeneous mSV landscapes of hematopoietic stem and progenitor cells. While mSVs are continuously acquired throughout life, expanded subclones in our cohort are confined to...

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Identifiers

PMID: 38806714
DOI: 10.1038/s41588-024-01754-2
PMCID: PMC11176070

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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