Reducing Sanger Confirmation Testing through False Positive Prediction Algorithms
James Holt, Melissa Kelly, Brett Sundlof, Ghunwa A. Nakouzi, David P Bick, Elaine Lyon
This study uses machine learning to predict false positive variants in clinical genome sequencing, reducing the need for confirmatory Sanger testing by 78.22%.
Genetics in Medicine · Mar 25, 2021Peer-reviewedBioinformatics