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IDeRare:一种轻量级和可扩展的开源表型和外体分析管道,用于生殖线罕见疾病诊断

Ivan William Harsono1, Yulia Ariani2, Beben Benyamin3,4,5

  • 1Doctoral Program in Biomedical Sciences, Faculty of Medicine, Universitas Indonesia, Jakarta 10430, Indonesia.

JAMIA open
|June 17, 2024
PubMed
概括

诊断罕见疾病是一项挑战. IDeRare管道加速了罕见疾病诊断的表型-基因型分析,帮助临床医生更快地发现变异和诊断见解.

关键词:
基因型 基因型 基因型开源软件是开源软件.现象型 现象型 是一种现象型.罕见疾病是一种罕见的疾病.术语术语术语的使用术语.

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