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Table 3 Run statistic

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

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   
  1. Run statistic from a single SOLiD v3 quad for all 20 barcoded samples.
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