Background Quantitatively describe the phenotype spectrum of pediatric disorders has remarkable power to assist genetic diagnosis. Here, we developed a matrix which provide this quantitative description of genomic-phenotypic association and constructed an automatic system to assist the diagnose of pediatric genetic disorders.

中文翻译：

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通过链接基因型和表型信息的儿科遗传疾病自动诊断系统

背景定量描述儿科疾病的表型谱对辅助基因诊断具有显着的作用。在这里，我们开发了一个矩阵，它提供了基因组-表型关联的定量描述，并构建了一个自动系统来帮助诊断小儿遗传疾病。