Exome sequencing and diagnosis is beginning to spread across the medical establishment. The most time-consuming part of genome-based diagnosis is the manual step of matching the potentially long list of patient candidate genes to patient phenotypes to identify the causative disease.

中文翻译：

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Phrank 测量表型设置相似性，以大大提高孟德尔诊断疾病的优先级。

外显子组测序和诊断开始在医疗机构中普及。基于基因组的诊断中最耗时的部分是将可能很长的患者候选基因列表与患者表型匹配以识别致病疾病的手动步骤。