Article

Benchmarking whole exome sequencing pipeline for predicting pathogenic variants of significance

2023-11-23

Abstract excerpt

Benchmarking whole exome pipelines is crucial for evaluating and comparing their performance in variant calling and clinical significance annotation. It enables researchers and clinicians to assess the accuracy, sensitivity, and specificity of different pipelines and identify the most effective and reliable ones. In this study, we evaluated and compared the performance of our in-house consensus exome pipeline with...

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Literature Corpus work: c6c4a79c-dbbc-50b3-a1e9-10b444760ed4
DOI: 10.21203/rs.3.rs-3613176/v1

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