Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Research Briefing
  • Published:

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.

This is a preview of subscription content, access via your institution

Access options

Buy this article

Prices may be subject to local taxes which are calculated during checkout

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

References

  1. Forsberg, L. A., Gisselsson, D. & Dumanski, J. P. Mosaicism in health and disease — clones picking up speed. Nat. Rev. Genet. 18, 128–142 (2017). A review article that presents an overview of classes of post-zygotic variation arising in the soma of an individual, including in blood cells, with a focus on structural variants.

    Article  CAS  PubMed  Google Scholar 

  2. ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium. Pan-cancer analysis of whole genomes. Nature 578, 82–93 (2020). This paper reports on the analysis and identification of common mutation patterns in more than 2,600 cancer genomes from four continents.

  3. Falconer, E. et al. DNA template strand sequencing of single-cells maps genomic rearrangements at high resolution. Nat. Methods 9, 1107–1112 (2012). This paper contains the first description and application of the Strand-seq method.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  4. Jeong, H. et al. Functional analysis of structural variants in single cells using Strand-seq. Nat. Biotechnol. 41, 832–844 (2023). This paper reports a computational framework (scNOVA) for linking structural variants identified in single cells with their functional consequences based on haplotype-resolved nucleosome occupancy analysis.

    Article  CAS  PubMed  Google Scholar 

  5. Sanders, A. D. et al. Single-cell analysis of structural variations and complex rearrangements with tri-channel processing. Nat. Biotechnol. 38, 343–354 (2020). This paper reports on the scTRIP computational framework for the discovery of structural variants in single cells and subclones, based on Strand-seq data.

Download references

Additional information

Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

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. https://doi.org/10.1038/s41588-024-01754-2 (2024).

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Unlocking the secrets of structural variants in a healthy tissue. Nat Genet 56, 1047–1048 (2024). https://doi.org/10.1038/s41588-024-01757-z

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/s41588-024-01757-z

Search

Quick links

Nature Briefing: Translational Research

Sign up for the Nature Briefing: Translational Research newsletter — top stories in biotechnology, drug discovery and pharma.

Get what matters in translational research, free to your inbox weekly. Sign up for Nature Briefing: Translational Research