Article

Reducing Sanger Confirmation Testing through False Positive Prediction Algorithms

2020-05-02

Abstract excerpt

<h4>Purpose</h4> Clinical genome sequencing (cGS) followed by orthogonal confirmatory testing is standard practice. While orthogonal testing significantly improves specificity it also results in increased turn-around-time and cost of testing. The purpose of this study is to evaluate machine learning models trained to identify false positive variants in cGS data to reduce the need for orthogonal testing. <h4>Metho...

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Literature Corpus work: fde065ca-6e87-5ccd-b246-3130cca8c32f
DOI: 10.1101/2020.04.30.066159

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