Author

Chloé Terwagne

The Francis Crick InstituteORCID 0000-0002-1208-2707Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Research Focus:variant effect prediction· 3 Research Focus:differential expression· 2 Approach:experimental assay· 2 Research Focus:gene regulatory network inference· 2 Approach:Bayesian inference· 1 Assay:CRISPR screen· 1 Research Focus:GWAS / association mapping· 1

Frequent Co-Authors

Gregory M. FindlayiD· 2 shared Laura CubittiD· 2 shared Megan BuckleyiD· 2 shared N. ForresteriD· 2 shared Phoebe DaceiD· 2 shared Anjali DasiD· 1 shared Athina GanneriD· 1 shared Chelsea SawyeriD· 1 shared

Activity by Year

2024-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Gregory M. FindlayORCID

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3 papers

Recent·Most cited

Saturation genome editing of BRCA1 across cell types accurately resolves cancer risk

Phoebe Dace, N. Forrester, Maria Zanti, Laura Cubitt, Chloé Terwagne, Megan Buckley, Elke Maria van Veen, Thomas Stuart Wilson, Paola Scaffidi, Kyriaki Michailidou, Gregory M. Findlay

This study uses saturation genome editing to assess BRCA1 variants across cell types, identifying functionally impactful variants and revealing context-dependent cancer risk.

medRxiv · Aug 11, 2025 · PreprintGenetic & Genomic Medicine

Leveraging functional annotations to map rare variants associated with Alzheimer's disease with gruyere

Anjali Das, Chirag M. Lakhani, Chloé Terwagne, Jui-Shan T Lin, Tatsuhiko Naito, Towfique Raj, David A. Knowles

This study introduces gruyere, a Bayesian model that improves rare variant association analysis by integrating functional annotations, identifying 15 new AD-associated genetic associations.

medRxiv · Dec 6, 2024 · PreprintGenetic & Genomic Medicine

Saturation Genome Editing Resolves the Functional Spectrum of Pathogenic VHL Alleles

Megan Buckley, Chloé Terwagne, Athina Ganner, Laura Cubitt, Reid A. Brewer, Dong‐Kyu Kim, Christina M. Kajba, N. Forrester, Phoebe Dace, Joachim De Jonghe, Scott T.C. Shepherd, Chelsea Sawyer, Mairead McEwen, Sven Diederichs, Elke Neumann‐Haefelin, , Gregory M. Findlay

This study uses Saturation Genome Editing to functionally assess VHL variants, identifying pathogenic alleles and their mechanisms in cancer.

Nature Genetics · Jul 1, 2024Peer-reviewedGenomics