Artificial intelligence (AI)-assisted exome reanalysis greatly aids in the identification of new positive cases and reduces analysis time in a clinical diagnostic laboratory
Genetics in Medicine（2022）
摘要
The use of AI in diagnostic laboratories greatly enhances exome sequencing analysis by reducing analysis time and increasing the diagnostic rate.
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关键词
Artificial intelligence,Exome sequencing,Reanalysis,Variant classification,Variant prioritization
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