PDF(Pubmed)
Abstract：
The potential of genome sequencing (GS), which allows detection of almost all types of genetic variation across nearly the entire genome of an individual, greatly expands the possibility for diagnosing genetic disorders. The opportunities provided with this single test are enticing to researchers and clinicians worldwide for human genetic research as well as clinical application. Multiple studies have highlighted the advantages of GS for genetic variant discovery, emphasizing its added value for routine clinical use. We have implemented GS as first-line genetic testing for patients with rare diseases. Here, we report on our experiences in establishing GS as a reliable diagnostic method for almost all types of genetic disorders, from validating diagnostic accuracy of sequencing pipelines to clinical implementation in routine practice.
摘要：
基因组测序（GS）的潜力，它可以检测到几乎所有类型的遗传变异，极大地扩展了诊断遗传疾病的可能性。这种单一测试提供的机会吸引了全世界的研究人员和临床医生进行人类基因研究和临床应用。多项研究强调了GS用于遗传变异发现的优势，强调其常规临床使用的附加值。我们已将GS作为罕见病患者的一线基因检测。这里,我们报告了我们在建立GS作为几乎所有类型的遗传疾病的可靠诊断方法的经验，从验证测序管道的诊断准确性到常规实践中的临床实施。
