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