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1. (WO2018085779) METHODS FOR ASSESSING GENETIC VARIANT SCREEN PERFORMANCE

Pub. No.:    WO/2018/085779    International Application No.:    PCT/US2017/060222
Publication Date: Sat May 12 01:59:59 CEST 2018 International Filing Date: Tue Nov 07 00:59:59 CET 2017
IPC: G06F 19/22
C40B 30/02
G06F 17/30
G06F 19/28
Applicants: COUNSYL, INC.
Inventors: GOULD, Genevieve, M.
WANG, Xin
GRAUMAN, Peter, V.
HOGAN, Gregory, John
ROBERTSON, Alexander, De Jong
MAGUIRE, Jared, Robert
KANG, Hyunseok
HAQUE, Imran, Saeedul
EVANS, Eric, Andrew
HAAS, Kevin, R.
Title: METHODS FOR ASSESSING GENETIC VARIANT SCREEN PERFORMANCE
Abstract:
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.