|
Costa et al.
|
[33]
|
9
|
9
|
2
|
1
|
Largest indel is a 3bp homopolymer
|
|
Tarabeau et al.
|
[57]
|
48
|
35
|
25
|
22
|
9 in BRCA1, 13 in BRCA2, established 130X as minimum coverage to detect all variants
|
|
Dacheva et al.
|
[58]
|
7
|
10
|
5
|
4
|
Established minimum coverage of 70X to detect all variants
|
|
Kluska et al.
|
[59]
|
20
|
15
|
7
|
3
|
8 in BRCA1 (3 1bp) and 7 in BRCA2 (4 1bp)
|
|
Yeo et al.
|
[60]
|
3
|
3
|
2
|
0
|
Used multiple mappers and variant callers to show that high sensitivity and specificity can be obtained in BRCA1/2 with Ion Torrent sequencing, but no mutations are in homopolymers
|
|
Trujillano et al.
|
[47]
|
19
|
8
|
6
|
3
|
115 known validation samples and 95 unknown samples
|
|
Chan et al.
|
[61]
|
3
|
2
|
1
|
Compares Solid to PGM, estimates reagent cost as $123 (Solid) and $220 (PGM)
|
|
Bosdet et al.
|
[62]
|
517
|
18
|
5
|
4
|
Known variants includes SNPs. Establish 100X minimum coverage to find all variants
|
| |
Total
| |
101
|
54
|
38
| |
