New sequencing technologies are revolutionizing disease gene discovery and testing with tremendous benefits for the diagnosis of rare diseases. However, the more we sequence, the more we discover, and the challenge is to assess the numerous variants in the clinical and genetic context carefully to establish the correct diagnosis. Clinicians and geneticists must work together for this because failure to do so can result in incorrect advice with potentially serious consequences.

中文翻译：

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诊断意义不确定：下一代测序可以代替临床医生吗？

新的测序技术正在彻底改变疾病基因的发现和测试方法，对罕见疾病的诊断具有巨大的优势。但是，我们测序的次数越多，发现的内容就越多，而挑战在于在临床和遗传背景下仔细评估众多变体以建立正确的诊断。临床医生和遗传学家必须为此共同努力，因为不这样做可能导致错误的建议，并可能导致严重的后果。