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Molecular evidence platform for auditable, continuous optimization of variant interpretation in genetic and genomic testing and analysis
Molecular evidence platform for auditable, continuous optimization of variant interpretation in genetic and genomic testing and analysis
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机译:分子证据平台,可用于在遗传和基因组测试与分析中对变量解释进行可审核的连续优化
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摘要
Disclosed herein are system, method, and computer program product embodiments for optimizing the determination of a phenotypic impact of a molecular variant identified in molecular tests, samples, or reports of subjects by way of regularly incorporating, updating, monitoring, validating, selecting, and auditing the best-performing evidence models for the interpretation of molecular variants across a plurality of evidence classes.
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