Author

Stephen J. Sawcer

University of CambridgeORCID 0000-0001-7685-0974Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:fine-mapping· 2 Organism:human· 2 Approach:Bayesian inference· 1 Research Focus:eQTL / molecular QTL mapping· 1 Assay:scRNA-seq· 1 Approach:statistical model· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Oliver StegleiD· 2 shared Ahmed Essam MahfouziD· 1 shared Aida Ripoll-CladellasiD· 1 shared Alice ManniD· 1 shared Carl A. AndersoniD· 1 shared Chung-Chau HoniD· 1 shared Corinna LosertiD· 1 shared Dan KaptijniD· 1 shared

Activity by Year

2020-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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2 shared papersGenetics

Oliver StegleORCID

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2 papers

Recent·Most cited

GeneticsbioRxivPreprintApr 14, 2026

Federated single-cell QTL meta-analysis reveals novel disease mechanisms

Dan Kaptijn, Lieke Michielsen, Drew R. Neavin…·Monique G.P. van der Wijst

The paper performs a federated cis-eQTL meta-analysis across single-cell datasets to identify cell-type-specific genetic effects and link them to disease mechanisms.

1 citation

humanscRNA-seq

𝕏 PostBluesky

GenomicsbioRxivPreprintJan 15, 2020

Genetic associations at regulatory phenotypes improve fine-mapping of causal variants for twelve immune-mediated diseases

Kousik Kundu, Alice Mann, Manuel Tardáguila…·Nicole Soranzo

This study uses regulatory QTLs from immune cells to fine-map causal variants for twelve immune-mediated diseases, finding smaller credible sets and higher posterior probabilities compared to traditional methods.

17 citations

humanwhole-genome sequencing

𝕏 PostBluesky