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Table 2 Statistics of initial exomes used for randomizations

From: Annotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease

  Sample identifier
Sample identifier 1 2 3 4 5 6 7 8
Platform GAII GAII GAII GAII HiSEQ HiSEQ HiSEQ HiSEQ
Essential splice site mutations 178 120 137 134 47 45 49 44
Nonsense mutations 99 88 95 108 101 60 68 68
Nonsynonymous mutations 8,864 7,468 8,039 8,246 7,925 6,715 6,487 6,560
Synonymous mutations 8,409 7,214 7,756 8,065 8,500 7,676 7,347 7,597
UTR mutations 3,839 3,216 3,080 3,264 4,264 1,443 1,421 1,367
  1. Eight previously acquired exomes were used to generate 8,000 synthetic exomes by randomization. The initial exomes were sequenced by either Illumina GA2 or Illumina HiSeq 2000, then aligned with BWA and variants were called using the GATK pipeline.