Research Article
Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis
Table 2
Quality of the targeted-next generation sequencing in this study.
| Sample | Number of target regions | Total length of target regions (bp) | Total mapped reads | Mapped reads in targeted region | Specificity (%) | Average coverage | Target covered with at least 1x (%) | Target covered with at least 20x (%) | Target covered with at least 40x (%) |
| Twin 1 (II-1) | 1182 | 445,968 | 2,136,143 | 1,850,847 | 89.93 | 263.6 | 98.56 | 95.51 | 91.68 | Twin 2 (II-2) | 1182 | 445,968 | 2,240,650 | 1,926,085 | 89.36 | 274.5 | 98.58 | 95.53 | 91.47 |
|
|