医学基因组计划：将罕见病诊断的全基因组测序推向临床。
The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic.
机构信息
Genome Diagnostics, The Hospital for Sick Children, Toronto, ON, Canada.
HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA.
出版信息
Genome Med. 2020 May 27;12(1):48. doi: 10.1186/s13073-020-00748-z.
Abstract
Clinical whole-genome sequencing (WGS) offers clear diagnostic benefits for patients with rare disease. However, there are barriers to its widespread adoption, including a lack of standards for clinical practice. The Medical Genome Initiative consortium was formed to provide practical guidance and support the development of standards for the use of clinical WGS.
摘要
临床全基因组测序（WGS）为罕见病患者提供了明确的诊断益处。然而，其广泛采用存在障碍，包括缺乏临床实践标准。医学基因组倡议联盟的成立旨在提供实用指导，并支持制定临床 WGS 使用标准。
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