Characterization of familial breast cancer in Saudi Arabia

BMC Genomics

Table 1 Next-generation run statistics for breast cancer exomes.

	case_193	case_195	case_264	case_320	case_573	case_574	case_903
Total reads	108,381,083	84,054,514	95,591,607	89,014,487	107,417,081	89,456,100	62,675,973
Mappable reads (%)	73%	67%	72%	73%	78%	64%	78%
Mappable yield (bp)	3,958,042,800	2,795,592,150	3,425,085,950	3,231,704,750	4,145,428,250	2,865,812,200	2,459,039,800
On-target yield (bp) (%)	46%	61%	74%	47%	63%	68%	52%
Coverage of target region (>10x)	71.24	67.68	67.21	64.93	80.59	70.16	64.64
Mean read depth of targeted region	34.63	33.02	45.09	28.08	49.87	37.42	24.14
Mean read depth of called variants	36.54	72.34	68.94	39.41	56.47	44.61	33.35
Number of high quality variants	23959	1788	5823	10019	18691	14113	9623
Number of missense, nonsense, splice, and indel variants	1861	154	352	619	1240	1035	616
Number of filtered damaging rare variants	53	6	21	39	105	91	45
Number of filtered damaging novel variants	141	46	108	80	116	129	71
Number of filtered damaging novel indels	85	38	129	55	54	38	123

ISSN: 1471-2164