A robust phenotype-driven likelihood ratio analysis approach assisting interpretable clinical diagnosis of rare diseases.

Yang, Jian; Shu, Liqi; Duan, Huilong; Li, Haomin

Yang, Jian; Shu, Liqi; Duan, Huilong; Li, Haomin.

Afiliación

Yang J; Clinical Data Center, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Zhejiang, China; The College of Biomedical Engineering and Instrument Science, Zhejiang University, Zhejiang, China.
Shu L; Rhode Island Hospital, Warren Alpert Medical School of Brown University, Rhode Island, USA.
Duan H; The College of Biomedical Engineering and Instrument Science, Zhejiang University, Zhejiang, China.
Li H; Clinical Data Center, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Zhejiang, China. Electronic address: hmli@zju.edu.cn.

J Biomed Inform ; 142: 104372, 2023 06.

Article en En | MEDLINE | ID: mdl-37105510

Asunto(s)

Algoritmos; Enfermedades Raras; Humanos; Enfermedades Raras/diagnóstico; Fenotipo; Diagnóstico Diferencial

Palabras clave

Differential diagnosis; Likelihood ratio; Phenotype; Rare diseases; Visualization

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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Algoritmos / Enfermedades Raras Tipo de estudio: Diagnostic_studies Idioma: En Revista: J Biomed Inform Asunto de la revista: INFORMATICA MEDICA Año: 2023 Tipo del documento: Article

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