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% |