Article

Learning phenotypic patterns in genetic diseases by symptom interaction modeling

2022-07-31

Abstract excerpt

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 symptoms and detected 3,222,05...

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Literature Corpus work: 37b0140f-d7c9-5508-ac83-aae2a94879cb
DOI: 10.1101/2022.07.29.22278181

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