The costs of whole-genome sequencing have rapidly decreased, and it is being increasingly deployed in large-scale clinical research projects and introduced into routine clinical care. This will lead to rapid diagnoses for patients with genetic disease but also introduces uncertainty because of the diversity of human genomes and the potential difficulties in annotating new genetic variants for individual patients and families. Here we outline the steps in organising whole-genome sequencing for patients in the neurology clinic and emphasise that close liaison between the clinician and the laboratory is essential.

中文翻译：

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全基因组测序

全基因组测序的成本迅速下降，越来越多地应用于大型临床研究项目并引入常规临床护理。这将导致对遗传病患者的快速诊断，但也由于人类基因组的多样性以及为个体患者和家庭注释新遗传变异的潜在困难而引入了不确定性。在这里，我们概述了为神经病学诊所的患者组织全基因组测序的步骤，并强调临床医生和实验室之间的密切联系是必不可少的。