Table 1.

Comparative performance of BRCA1/2 models across cross-validation and non-redundant blind test sets.

Model		MCC	Sensitivity	Specificity	F1 score	Precision	Accuracy
BRCA1-specific models
BRCA1	CV	0.96	93%	98%	0.96	0.96	0.96
	test	0.89	92%	82%	0.86	0.87	0.86
BRCA1-combined	CV	0.96	94%	98%	0.97	0.97	0.97
	test	0.89	100%	91%	0.94	0.95	0.94
BRCA1-ENIGMA	CV	0.96	99%	99%	0.99	0.99	0.99
	test	0.82	92%	90%	0.93	0.94	0.92
BRCA2-specific models
BRCA2	CV	0.98	96%	98%	0.98	0.98	0.98
	test	0.89	60%	100%	0.92	0.93	0.92
BRCA2-combined	CV	0.89	82%	93%	0.91	0.91	0.91
	test	0.83	86%	100%	0.97	0.98	0.97
BRCA2-ENIGMA	CV	0.95	99%	99%	0.99	0.99	0.99
	test	1.00	100%	100%	1.00	1.00	1.00
General model
BRCA1/2 general model	CV	0.91	96%	98%	0.96	0.96	0.96
	test	0.76	93%	100%	0.93	0.93	0.92