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Table 1 Whole Exome Sequencing detail of coverage and number of reads for patient one family I. Other whole exome sequencing results have similar depth and coverage metrics

From: Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene

Type Value Type Value
Number of mapped reads 41,674,840 Percent reads on target 95.70%
Number of amplicons 293,903 Total assigned amplicon reads 39,882,524
Percent assigned amplicon reads 95.70% Average reads per amplicon 136
Uniformity of amplicon coverage 86.30% Amplicons with at least 100 reads 53.69%
Amplicons with at least 1 read 99.54% Amplicons with at least 500 reads 0.70%
Amplicons with at least 20 reads 90.02% Amplicons reading end-to-end 35.97%
Amplicons with no strand bias 85.64% Total aligned base reads 7,342,243,527
Bases in target regions 57,742,646 Total base reads on target 6,979,820,754
Percent base reads on target 0.95 Uniformity of base coverage 0.85
Average base coverage depth 121 Target bases with no strand bias 78.31%
Target base coverage at 1x 99.18% Target base coverage at 100x 47.95%
Target base coverage at 20x 87.91% Target base coverage at 500x 0.62%
Percent end-to-end reads 58.98% mapping rate 99.10%
AQ17 92.21% AQ20 87.51%