Article

CONVEX: Consensus Variant Pipeline for Exome Analysis

2023-10-10

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: 328c9300-4061-5fda-a337-9d2410a1c494
DOI: 10.1101/2023.10.07.561328

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