| Title: |
Demonstrating paths for unlocking the value of cloud genomics through cross cohort analysis |
| Authors: |
Deflaux, N; Selvaraj, MS; Condon, HR; Mayo, K; Haidermota, S; Basford, MA; Lunt, C; Philippakis, AA; Roden, DM; Denny, JC; Musick, A; Collins, R; Allen, N; Effingham, M; Glazer, D; Natarajan, P; Bick, AG |
| Publisher Information: |
Springer Nature |
| Publication Year: |
2025 |
| Collection: |
Oxford University Research Archive (ORA) |
| Description: |
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. |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| DOI: |
10.1038/s41467-023-41185-x |
| Availability: |
https://doi.org/10.1038/s41467-023-41185-x; https://ora.ox.ac.uk/objects/uuid:882a3b7e-7294-4ca9-93c8-1bafe5a08b80 |
| Rights: |
info:eu-repo/semantics/openAccess ; CC Attribution (CC BY) |
| Accession Number: |
edsbas.BA7067E2 |
| Database: |
BASE |