Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes.
C Cubuk,
A Garrett,
S Choi,
L King,
C Loveday,
B Torr,
GJ Burghel,
M Durkie,
A Callaway,
R Robinson,
J Drummond,
I Berry,
A Wallace,
D Eccles,
M Tischkowitz,
N Whiffin,
JS Ware,
H Hanson,
C Turnbull,
CanVIG-UK
Oct 28, 2021
PURPOSE: Where multiple in silico tools are concordant, the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) framework affords supporting evidence toward pathogenicity or...