Author

Eve L. Coomber

Wellcome Sanger InstituteORCID 0000-0002-7093-2263Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 4 Research Focus:differential expression· 3 Approach:experimental assay· 2 Approach:statistical model· 2 Assay:ATAC-seq· 1 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Assay:DNA methylation· 1

Frequent Co-Authors

Sebastian S. GeretyiD· 3 shared Adam Hunter· 1 shared Alex TokolyiiD· 1 shared Alexandra S. NeaversoniD· 1 shared Alison Foster· 1 shared Andrew Day· 1 shared Andrew H. CrosbyiD· 1 shared Andrew M. McIntoshiD· 1 shared

Activity by Year

2016-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 17 mutual co-author links

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3 shared papersGenetics

Sebastian S. GeretyORCID

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Author profile →

4 papers

Recent·Most cited

Integrating Natural and Engineered Genetic Variation to Decode Regulatory Influence on Blood Traits

Manuel Tardáguila, Dominique Von Schiller, M. Colombo, Ilaria Gori, Eve L. Coomber, Thomas Vanderstichele, Paola Benaglio, Chiara Chiereghin, Sebastian S. Gerety, Dragana Vuckovic, Arianna Landini, Giuditta Clerici, Aurora Casiraghi, Patrick K. Albers, Helen F. Ray-Jones, , Nicole Soranzo

The paper combines natural and engineered genetic variation to identify 22 non-coding variants affecting haematological traits and shows how a CUX1 variant impacts megakaryopoiesis.

Cell Reports · Feb 1, 2026Peer-reviewedGenetics

Screening for functional regulatory variants in open chromatin using GenIE-ATAC

Sarah Cooper, Jeremy Schwartzentruber, Eve L. Coomber, Qianxin Wu, Andrew Roger Bassett

The paper introduces GenIE-ATAC, a medium-throughput method to screen regulatory variants' effects on chromatin accessibility, validating causal variants and extending analysis tools.

Nucleic Acids Research · May 1, 2023Peer-reviewedGenetics

Mouse and cellular models of KPTN-related disorder implicate mTOR signalling in cognitive and progressive overgrowth phenotypes

Maria O. Levitin, Lettie E. Rawlins, Gabriela Sánchez-Andrade, Osama A. Arshad, Stephan C. Collins, Stephen J. Sawiak, Philip H. Iffland, Malin H. L. Andersson, Caleb P. Bupp, Emma L. Cambridge, Eve L. Coomber, Ian Ellis, Johanna C. Herkert, Holly Ironfield, Logan Jory, , Sebastian S. Gerety

The paper investigates KPTN-related disorder using mouse and human stem cell models, identifying mTOR pathway dysregulation as a key mechanism underlying cognitive and overgrowth phenotypes.

bioRxiv · Jul 15, 2022 · PreprintGenetics

Rare loss-of-function variants in KMT2F are associated with schizophrenia and developmental disorders

Tarjinder Singh, Mitja I. Kurki, David Curtis, Shaun M. Purcell, Lucy Crooks, Jeremy McRae, Jaana Suvisaari, Himanshu Chheda, Douglas Blackwood, Gerome Breen, Olli Pietilainen, Sebastian S. Gerety, Muhammad Ayub, Moira Blyth, Trevor Cole, , Carmel Moo

The paper identifies rare loss-of-function variants in KMT2F associated with schizophrenia and developmental disorders, showing their role in neurodevelopmental conditions.

bioRxiv · Jan 12, 2016Genomics