Design and interpretation of eQTL-GWAS colocalisation studies: Lessons from a large-scale evaluation

Guillermo Reales; Jeffrey M. Pullin; Ichcha Manipur; Elena Vigorito; Chris Wallace

doi:10.1371/journal.pgen.1012141

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Open Access

Peer-reviewed

Research Article

Design and interpretation of eQTL-GWAS colocalisation studies: Lessons from a large-scale evaluation

Guillermo Reales,

Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Software, Visualization, Writing – original draft, Writing – review & editing

Affiliation Cambridge Institute of Therapeutic Immunology & Infectious Disease (CITIID), Jeffrey Cheah Biomedical Centre, Cambridge Biomedical Campus, University of Cambridge, Cambridge, United Kingdom

https://orcid.org/0000-0001-9993-3916

⨯
Jeffrey M. Pullin,

Roles Formal analysis, Investigation, Methodology, Software, Writing – original draft, Writing – review & editing

Affiliation MRC Biostatistics Unit, University of Cambridge, Cambridge, United Kingdom
⨯
Ichcha Manipur,

Roles Formal analysis, Methodology, Software, Writing – review & editing

Affiliation Cambridge Institute of Therapeutic Immunology & Infectious Disease (CITIID), Jeffrey Cheah Biomedical Centre, Cambridge Biomedical Campus, University of Cambridge, Cambridge, United Kingdom

https://orcid.org/0000-0001-5348-8378

⨯
Elena Vigorito ,

Contributed equally to this work with: Elena Vigorito, Chris Wallace

Roles Conceptualization, Formal analysis, Investigation, Methodology, Project administration, Software, Visualization, Writing – original draft, Writing – review & editing

* E-mail: elena.vigorito@mrc-bsu.cam.ac.uk (EV); cew54@cam.ac.uk (CW)

Affiliation MRC Biostatistics Unit, University of Cambridge, Cambridge, United Kingdom

https://orcid.org/0000-0001-6230-3849

⨯
Chris Wallace

Contributed equally to this work with: Elena Vigorito, Chris Wallace

Roles Conceptualization, Formal analysis, Funding acquisition, Methodology, Project administration, Software, Supervision, Visualization, Writing – original draft, Writing – review & editing

* E-mail: elena.vigorito@mrc-bsu.cam.ac.uk (EV); cew54@cam.ac.uk (CW)

Affiliations Cambridge Institute of Therapeutic Immunology & Infectious Disease (CITIID), Jeffrey Cheah Biomedical Centre, Cambridge Biomedical Campus, University of Cambridge, Cambridge, United Kingdom, MRC Biostatistics Unit, University of Cambridge, Cambridge, United Kingdom

https://orcid.org/0000-0001-9755-1703

⨯

Design and interpretation of eQTL-GWAS colocalisation studies: Lessons from a large-scale evaluation

Guillermo Reales,
Jeffrey M. Pullin,
Ichcha Manipur,
Elena Vigorito,
Chris Wallace

Published: May 8, 2026
https://doi.org/10.1371/journal.pgen.1012141

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