VarSight: Prioritizing Clinically Reported Variants with Binary Classification Algorithms
Undiagnosed Diseases Network, James Holt, Brandon M. Wilk, Camille L. Birch, Donna M. Brown, Manavalan Gajapathy, Alexander Clayton Moss, Nadiya Sosonkina, Melissa A. Wilk, Julie A. Anderson, Jeremy M. Harris, Jacob M. Kelly, Fariba Shaterferdosian, Angelina E. Uno-Antonison, Arthur Weborg, Elizabeth A. Worthey
VarSight uses binary classification algorithms to prioritize clinically reported variants in rare disease patients, outperforming existing methods in identifying pathogenic variants.
BMC Bioinformatics · Oct 15, 2019Peer-reviewedBioinformatics