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.

SampleNumber of target regionsTotal length of target regions (bp)Total mapped readsMapped reads in targeted regionSpecificity (%)Average coverageTarget covered with at least 1x (%)Target covered with at least 20x (%)Target covered with at least 40x (%)

Twin 1 (II-1)1182445,9682,136,1431,850,84789.93263.698.5695.5191.68
Twin 2 (II-2)1182445,9682,240,6501,926,08589.36274.598.5895.5391.47