Search International and National Patent Collections
|1. (WO2018085779) METHODS FOR ASSESSING GENETIC VARIANT SCREEN PERFORMANCE|
|Inventors:||GOULD, Genevieve, M.
GRAUMAN, Peter, V.
HOGAN, Gregory, John
ROBERTSON, Alexander, De Jong
MAGUIRE, Jared, Robert
HAQUE, Imran, Saeedul
EVANS, Eric, Andrew
HAAS, Kevin, R.
|Title:||METHODS FOR ASSESSING GENETIC VARIANT SCREEN PERFORMANCE|
Described herein are methods of assessing the performance of a genetic variant screen. A summary statistic can be determined to assess the performance of the genetic variant screen. In some embodiments, the summary statistic is determined using synthetic copy number variants. In some embodiments, the summary statistic is determined using a reference sequence having a synthetic variant.