Article

Learning phenotypic patterns in genetic diseases by symptom interaction modeling

2022-10-14

Abstract excerpt

<title>Abstract</title> <p>Observing phenotyping practices from an international cohort of 1,686 cases revealed heterogeneity of phenotype reporting among clinicians. Heterogeneity limited their exploitation for diagnosis as only 43% of symptom-gene associations in the cohort were available in public databases. We developed a symptom interaction model that summarized 16,600 terms into 390 groups of interacting sy...

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Literature Corpus work: 8578f235-8d6e-53e2-9b85-57c0c582a80a
DOI: 10.21203/rs.3.rs-2152267/v1

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