Perturbation robustness analyses reveal important parameters in variant interpretation pipelines

Abstract excerpt

<h4>Motivation</h4> Genome sequencing is being used routinely in clinical and research applications, but subsequent variant interpretation pipelines can vary widely. A systematic approach for exploring parameter choices and selection plays an important role in designing robust pipelines for specific clinical applications. <h4>Results</h4> We present a framework to be applied in scenarios with limited data whereb...

Topics

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• Cost-Benefit Analysis
• Exome
• Exome Sequencing
• Genetic Diseases, Inborn
• Genome, Human
• Germ-Line Mutation
• INDEL Mutation
• Sensitivity and Specificity

Identifiers and source

Literature Corpus work

fb830b99-3db5-51f5-89b9-ae22804f3ad4

DOI

10.1101/2020.06.29.173815