Journal article
Demonstrating paths for unlocking the value of cloud genomics through cross cohort analysis
- Abstract:
- Recently, large scale genomic projects such as All of Us and the UK Biobank have introduced a new research paradigm where data are stored centrally in cloud-based Trusted Research Environments (TREs). To characterize the advantages and drawbacks of different TRE attributes in facilitating cross-cohort analysis, we conduct a Genome-Wide Association Study of standard lipid measures using two approaches: meta-analysis and pooled analysis. Comparison of full summary data from both approaches with an external study shows strong correlation of known loci with lipid levels (R2 ~ 83–97%). Importantly, 90 variants meet the significance threshold only in the meta-analysis and 64 variants are significant only in pooled analysis, with approximately 20% of variants in each of those groups being most prevalent in non-European, non-Asian ancestry individuals. These findings have important implications, as technical and policy choices lead to cross-cohort analyses generating similar, but not identical results, particularly for non-European ancestral populations.
- Publication status:
- Published
- Peer review status:
- Peer reviewed
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(Preview, Version of record, pdf, 1.9MB, Terms of use)
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- Publisher copy:
- 10.1038/s41467-023-41185-x
Authors
+ National Human Genome Research Institute
More from this funder
- Funder identifier:
- https://ror.org/00baak391
- Grant:
- U01 HG011719
- Publisher:
- Springer Nature
- Journal:
- Nature Communications More from this journal
- Volume:
- 14
- Issue:
- 1
- Article number:
- 5419
- Place of publication:
- England
- Publication date:
- 2023-09-05
- Acceptance date:
- 2023-08-24
- DOI:
- EISSN:
-
2041-1723
- Pmid:
-
37669985
- Language:
-
English
- Keywords:
- Pubs id:
-
1524987
- Local pid:
-
pubs:1524987
- Deposit date:
-
2025-02-03
- ARK identifier:
Terms of use
- Copyright holder:
- Deflaux et al
- Copyright date:
- 2023
- Rights statement:
- ©The Author(s) 2023. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.
- Licence:
- CC Attribution (CC BY)
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