Genetic Testing in Hereditary Breast and Ovarian Cancer Using Massive Parallel Sequencing

Table 1

Summary of sequencing runs and coverage results of the validation set.

	Run 1	Run 2	Run 3
	BRCAMASTRv1.2	BRCAMASTRv2.0	BRCAMASTRv2.0
Samples	7	8	8
Amplicons	169	94	94
Passed filter reads	118006	78777	100771
Mapped reads	113374	78698	100344
Coverage (number of reads/amplicon)
Minimum	19	13	17
Mean	96,98	102,7	132,27
Maximum	277	445	414
Standard deviation coverage	35,8	46,92	70,51
Amplicons <38 reads (%)	32 (2.7)	32 (4.2)	13 (1.72)