Over 150,000 variants have been reported to cause Mendelian disease in the medical literature. It is still difficult to leverage this knowledge base in clinical practice, as many reports lack strong statistical evidence or may include false associations. Clinical laboratories assess whether these variants (along with newly observed variants that are adjacent to these published ones) underlie clinical disorders.

中文翻译：

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基因组规模的文献综述：改进临床变异评估。

医学文献中报告了超过 150,000 种变异导致孟德尔病。在临床实践中利用这一知识库仍然很困难，因为许多报告缺乏强有力的统计证据或可能包含错误的关联。临床实验室评估这些变体（以及与这些已发表变体相邻的新观察到的变体）是否是临床疾病的基础。