Research Article

Novel Likely Pathogenic Variants Identified by Panel-Based Exome Sequencing in Congenital Cataract Patients

Table 2

Summary of probands sequencing data in three families.

SamplesProband (family A)Proband (family B)Proband (family C)

Raw_data_bases (Mb)2726.512825.351443.22
Clean_data_bases (Mb)2615.892630.751393.44
Aligned_bases (Mb)2597.732618.711387.15
Aligned (%)99.3199.5499.55
Initial bases on target456294456294455256
Base covered on target453517453355451520
Coverage of target region (%)99.3999.3699.18
Effective bases on target177513627189678089127259738
Fraction of effective bases on target (%)6.837.249.17
Average sequencing depth on target389.03415.69279.53
Fraction of target covered with at least 4X (%)99.1699.0998.73
Fraction of target covered with at least 10X (%)98.9598.7897.89
Fraction of target covered with at least 20X (%)98.2898.0195.63
Duplication rate (%)22.7224.9928.34