所有罕见遗传疾病的诊断：现状与未来前沿。
A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers.
机构信息
Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
出版信息
Cell. 2019 Mar 21;177(1):32-37. doi: 10.1016/j.cell.2019.02.040.
The introduction of exome sequencing in the clinic has sparked tremendous optimism for the future of rare disease diagnosis, and there is exciting opportunity to further leverage these advances. To provide diagnostic clarity to all of these patients, however, there is a critical need for the field to develop and implement strategies to understand the mechanisms underlying all rare diseases and translate these to clinical care.
外显子组测序在临床上的引入为罕见病诊断的未来带来了巨大的乐观，并且有令人兴奋的机会可以进一步利用这些进展。然而，为了为所有这些患者提供明确的诊断，该领域迫切需要开发和实施策略，以了解所有罕见疾病的根本机制，并将这些机制转化为临床护理。
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