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Table 1 Summary statistics for data used in simulated experiment across different regions

From: Global inference of disease-causing single nucleotide variants from exome sequencing data

  Exon Promoter Intron Splice site
Causal Variant 8350 114 303 1105
Gene 1063 34 132 280
Control (average) Variant 9512 18,181 2532 78
Gene 5336 8486 2102 77
  1. For control, the numbers of neutral variants across different regions are average number of corresponding neutral variants in 1092 individuals from the 1000 Genomes Project Phase I