一面匹配门户 (OSMP):一个工具,以促进罕见疾病患者匹配

Matthew Osmond1, E Magda Price1, Orion J Buske2

  • 1Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.

Human mutation
|October 17, 2025
PubMed
概括

一方面匹配使得通过查询患者基因组数据中的特定基因,能够发现罕见遗传疾病的基因. 一面匹配门户 (OSMP) 有效地过变体的发生,大大减少了研究人员的错误阳性.

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