Author

Elena Cibrián–Uhalte

European Bioinformatics InstituteORCID 0000-0002-0987-9862Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Research Focus:database / resource· 2 Organism:human· 1 Approach:machine learning (classical)· 1 Approach:statistical model· 1

Frequent Co-Authors

Caroline Fiona WrightiD· 2 shared Helen V. FirthiD· 2 shared Louise ThompsoniD· 2 shared Morad AnsariiD· 2 shared Sarah E HuntiD· 2 shared T. Michael YatesiD· 2 shared Diana LemosiD· 1 shared Joseph A. MarshiD· 1 shared

Activity by Year

2024-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 41 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Caroline Fiona WrightORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintNov 24, 2025

Domain-wide Mapping of Peer-reviewed Literature for Genetic Developmental Disorders using Machine Learning and Gene2Phenotype

T. Michael Yates, Sarah E Hunt, Diana Lemos…·T. Ian Simpson

The paper develops an automated pipeline to map genetic developmental disorder literature to Gene2Phenotype using NLP models, achieving high accuracy and scalability for biocuration.

1 citation

humanmachine learning (classical)

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintFeb 26, 2024

Curating genomic disease-gene relationships with Gene2Phenotype

T. Michael Yates, Morad Ansari, Louise Thompson…·Helen V. Firth

The paper describes a structured curation process for the Gene2Phenotype project to systematically evaluate and organize genomic disease-gene relationships.

2 citations

statistical modeldatabase / resource

𝕏 PostBluesky