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GWAS Study

Demonstrating paths for unlocking the value of cloud genomics through cross cohort analysis.

Deflaux N, Selvaraj MS, Condon HR et al.

37669985 PubMed ID
GWAS Study Type
228736 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

DN
Deflaux N
SM
Selvaraj MS
CH
Condon HR
MK
Mayo K
HS
Haidermota S
BM
Basford MA
LC
Lunt C
PA
Philippakis AA
RD
Roden DM
DJ
Denny JC
MA
Musick A
CR
Collins R
AN
Allen N
EM
Effingham M
GD
Glazer D
NP
Natarajan P
BA
Bick AG
Chapter II

Abstract

Summary of the research findings

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.

228,736 European ancestry individuals

Chapter III

Study Statistics

Key metrics and study information

228736
Total Participants
GWAS
Study Type
No
Replicated
European
Ancestry
U.K.
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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Analysis In Progress

Our analysis of this publication is currently being prepared. Please check back soon for comprehensive insights into the health and genetic findings discussed in this research.