Reducing Sanger confirmation testing through false positive prediction algorithms.

James M HoltMelissa KellyBrett SundlofGhunwa NakouziDavid BickElaine Lyon

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)

Our results indicate that a low false positive call rate can be maintained while significantly reducing the need for confirmatory testing. The framework that generated our models and results is publicly available at https://github.com/HudsonAlpha/STEVE .

Keyphrases

machine learning
deep learning