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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%
  1. GTE Greater or equal to #