Article

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

2025-11-25

Abstract excerpt

Genetically determined developmental disorders (GDD) are rare, heterogeneous conditions for which clinical diagnosis increasingly depends on genomic variant prioritisation and rapid synthesis of genotype–phenotype evidence scattered across the literature. Manual curation of this evidence is labour-intensive, difficult to scale and to keep up to date. We present a domain-wide, automated pipeline that identifies Pub...

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Literature Corpus work: c9502cb6-50fa-51f8-a67d-797842e2ca5e
DOI: 10.1101/2025.11.24.25340871

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