VarSight: prioritizing clinically reported variants with binary classification algorithms.

James M HoltBrandon WilkCamille L BirchDonna M BrownManavalan GajapathyAlexander C MossNadiya SosonkinaMelissa A WilkJulie A AndersonJeremy M HarrisJacob M KellyFariba ShaterferdosianAngelina E Uno-AntonisonArthur Weborgnull nullElizabeth A Worthey

Published in: BMC bioinformatics (2019)

We demonstrated how freely available binary classification algorithms can be used to prioritize variants even in the presence of real-world variability. Furthermore, these classifiers outperformed all other tested methods, suggesting that they may be well suited for working with real rare disease patient datasets.

Keyphrases

machine learning
deep learning
copy number
ionic liquid
case report
gene expression