Table 1 Whole Exome Sequencing detail of coverage and number of reads
From: A novel mutation in SEPN1 causing rigid spine muscular dystrophy 1: a Case report
Type | Value | Type | Value |
|---|---|---|---|
Total Reads | 11,709,761 | Percent reads on target | 95.70% |
Passed filter Unique Reads aligned | 11,648,030 | Percent Passed filter Unique Reads aligned | 99.77% |
Mean Target Coverage | 85X | Percent on Target | 92.01% |
Percent Duplicate | 10.94% | Duplicate in analysis | 0% |
Capture Method | Agilent Inherited Disease | Total Genes Covered | 3204 |
Run method | NextSeq 500 | Sequence length | 151 Pair-End |
Phred Quality Score above 38 | 90% | GC content | 55% |
Nucleotide Covered GTE_1 | 100% | Nucleotide Covered GTE_5 | 99% |
Nucleotide Covered GTE_8 | 98% | Nucleotide Covered GTE_10 | 97% |
Nucleotide Covered GTE_15 | 91% | Nucleotide Covered GTE_20 | 83% |
Nucleotide Covered GTE_30 | 69% | Nucleotide Covered GTE_40 | 56% |
Nucleotide Covered GTE_50 | 44% | Nucleotide Covered GTE_60 | 35% |
Nucleotide Covered GTE_70 | 27% | Nucleotide Covered GTE_80 | 21% |
Nucleotide Covered GTE_90 | 16% | Nucleotide Covered GTE_100 | 13% |