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:

Genetic control of alternative splicing across blood cell types from diverse Asian donors

Nature Genetics volume 56, pages 2602–2603 (2024)Cite this article

Subjects

Existing functional genomics datasets are European-centric. The Asian Immune Diversity Atlas incorporated single-cell RNA-sequencing data from approximately 1 million peripheral blood mononuclear cells from around 500 donors of diverse Asian ancestries. Mapping of splicing quantitative trait loci revealed context-specific regulation of alternative splicing, as well as cell-type and ancestry-specific genetic effects on complex diseases.

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

Access options

Buy this article

  • Purchase on SpringerLink
  • Instant access to the full article PDF.

USD 39.95

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

Fig. 1: Splicing analysis of population-scale scRNA-seq.

References

  1. The GTEx Consortium. The GTEx Consortium atlas of genetic regulatory effects across human tissues. Science 369, 1318–1330 (2020). This paper presents a population-scale multi-tissue eQTL and sQTL atlas.

    Article  PubMed Central  Google Scholar 

  2. Yao, D. W., O'Connor, L. J., Price, A. L. & Gusev, A. Quantifying genetic effects on disease mediated by assayed gene expression levels. Nat. Genet. 52, 626–633 (2020). This paper demonstrates that tissue-level eQTLs are limited in explaining disease heritability.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  3. Cuomo, A. S. E., Nathan, A., Raychaudhuri, S., MacArthur, D. G. & Powell, J. E. Single-cell genomics meets human genetics. Nat. Rev. Genet. 24, 535–549 (2023). A review article on recent advancement in single-cell genomics, especially for single-cell eQTL mapping.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  4. Kock, K. H. et al. Single-cell analysis of human diversity in circulating immune cells. Preprint at https://www.biorxiv.org/content/10.1101/2024.06.30.601119v1 (2024). This preprint is the AIDA flagship manuscript.

  5. Affymetrix/Cold Spring Harbor Laboratory ENCODE Transcriptome Project. Post-transcriptional processing generates a diversity of 5′-modified long and short RNAs. Nature 457, 1028–1032 (2009). This paper describes the generation of endogenous 5′-modified RNAs from post-transcriptional processing.

    Article  Google Scholar 

Download references

Additional information

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

This is a summary of: Tian, C. et al. Single-cell RNA sequencing of peripheral blood links cell-type-specific regulation of splicing to autoimmune and inflammatory diseases. Nat. Genet. https://doi.org/10.1038/s41588-024-02019-8 (2024).

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Genetic control of alternative splicing across blood cell types from diverse Asian donors. Nat Genet 56, 2602–2603 (2024). https://doi.org/10.1038/s41588-024-02020-1

Download citation

  • Published:

  • Version of record:

  • Issue date:

  • DOI: https://doi.org/10.1038/s41588-024-02020-1

Search

Advanced 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