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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