Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations

Table 3 Run statistic

Gene name	Total reads	Mappable reads	Aligned reads (%)	Reads/Exon	Ave. coverage/Base	Exon with min coverage	Min coverage
*ACADVL*	2,459,557	1,352,756	55	39,971	10,278	2	957
*BCKDHA_1*	1,605,090	742,999	46.3	51,129	10,663	1	3695
*BCKDHA_2*	1,781,857	963,985	54.1	60,721	12,565	1	2390
*CBS*	2,032,870	1,120,111	55.1	35,875	8,729	3	1181
*CFTR*	2,025,300	1,042,746	51.5	23,522	4,895	15 & 27	0
*DMD*	1,862,128	996,238	53.5	8,385	1,821	2	68
*GAA*	1,956,406	1,013,418	51.8	26,236	5,431	18	1071
*GALC_1*	3,119,076	1,618,800	51.9	49,371	11,562	1	13
*GALC_2*	2,790,038	1,377,442	49.4	40,593	9,476	1	1428
*GALT*	1,795,122	1,086,049	60.5	60,858	15,566	8	5563
*GBA_1*	1,938,689	1,163,213	60	35,545	7,171	10	1277
*GBA_2*	1,793,280	1,075,968	60	32,945	6,641	10	541
*GJB2*	1,501,448	875,344	58.3	643,999	42,101	2	1
*HEXB*	1,851,105	897,786	48.5	34,570	7,641	12	1187
*IDUA*	1,275,727	637,864	50	22,550	4,978	1	4
*OPA1*	1,933,855	964,994	49.9	19,893	5,003	17 & 23	0
*RECQL4*	2,053,423	903,506	44	21,494	3,935	1	139
*SGSH*	1,845,441	992,663	53.8	47,870	9,990	1	3847
*SMPD1*	1,505,628	864,230	57.4	94,517	10,552	2	1986
*ZEB2*	1,653,612	1,036,815	62.7	82,365	8,394	8	1921
Average	1,938,983	1,036,346	53	71,620	9,870

ISSN: 2730-6844