Next-generation sequencing for D47N mutation in Cx50 analysis associated with autosomal dominant congenital cataract in a six-generation Chinese family

Table 1 Coverage statistics with next-generation sequencing in ten patients with autosomal dominant congenital cataract and one unaffected member of family

Sample	III12	IV11	IV28	IV30	IV73	V9	V27	VI3	VI9	VI15	IV40
Total base mapped (G)	11.6	12.31	12.15	9.72	11.92	12.35	13.16	9.65	10.37	11.51	11.84
Region of target kit	64,558,893	64,326,610	64,326,610	64,326,610	64,558,893	64,558,893	64,558,893	64,326,610	64,326,610	64,326,610	64,326,610
Region of covered on target	64,226,731	64,090,887	64,126,819	64,109,790	64,332,815	64,368,416	64,322,956	64,060,274	64,112,774	64,117,790	64,141,226
Coverage of target region (%)	99.49	99.63	99.69	99.66	99.65	99.7	99.63	99.59	99.67	99.68	99.71
Effective bases on target (G)	11.68	12.32	12.3	10	11.92	12.77	13.14	10.32	10.8	9.98	12.09
Average sequencing depth on target region	180.98	191.56	191.23	155.43	184.67	197.75	203.48	160.48	167.92	155.12	187.92
Target coverage with at least 5× (%)	98.72	98.93	99.02	98.93	98.98	99.11	99.01	98.78	98.96	98.92	99.05
Target coverage with at least 10× (%)	98.07	98.32	98.42	98.19	98.37	98.54	98.47	98.09	98.32	98.24	98.45
Target coverage with at least 20× (%)	96.99	97.25	97.31	96.57	97.21	97.42	97.54	96.83	97.17	96.92	97.42
Flank region coverage with at least 5× (%)	22.26	18.67	18.83	18	18.1	17.42	17.67	17.1	16.92	17.07	16.61
Flank region coverage with at least 10× (%)	17.82	14.06	13.87	13.12	13.48	12.06	12.01	13.14	13.22	11.6	11.37
Flank region coverage with at least 20× (%)	15.16	11.79	11.58	10.7	11.18	9.94	9.88	10.88	11.02	9.34	9.34
Exome coverage with at least 5× (%)	98.1	98.3	98.4	98.3	98.4	98.6	98.4	98	98.3	98.3	98.4
Exome coverage with at least 5× (%)	97.2	97.4	97.6	97.4	97.6	97.8	97.6	97	97.4	97.3	97.5
Exome coverage with at least 5× (%)	95.9	96.2	96.4	95.9	96.4	96.6	96.5	95.6	96.1	95.9	96.3

ISSN: 1471-2415