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Table 1 Summary of 1,000 Genomes Project dataset analysis

From: ASEQ: fast allele-specific studies from next-generation sequencing data

Individual ID

DNA mean coverage

RNA mean coverage

Het SNPs

Available genes

ASE genes

Imprinted available genes

Imprinted ASE genes

Fisher p-value

NA06994

98

46

7397

1896

94 (5%)

7

2 (28%)

0.04

NA07357

71

139

7904

1889

71 (3.8%)

9

2 (22%)

0.04

NA10847

105

104

7490

1877

101 (5.4%)

5

1 (20%)

0.2

NA11831

74

126

7604

2002

101 (5%)

3

0

-

NA11843

55

136

7361

1694

77 (4.5%)

4

1 (25%)

0.2

NA11894

148

107

6385

1683

91 (5.4%)

2

2 (100%)

0.003

NA11930

58

149

7320

1662

47 (2.8%)

7

3 (30%)

0.0008

NA11992

84

90

7724

1744

58 (3.3%)

6

0

-

NA12004

59

94

7562

1544

48 (3.1%)

3

1 (33%)

0.09

NA12043

108

77

7759

1838

91 (5%)

5

1 (20%)

0.2

NA12045

81

122

7419

1841

58 (3.2%)

3

0

-

NA12144

87

81

7844

2020

92 (4.6%)

7

2 (28%)

0.04

NA12155

83

113

7940

1802

87 (4.8%)

4

2 (50%)

0.01

NA12286

107

100

7572

1767

86 (4.9%)

8

2 (25%)

0.06

NA12348

134

124

6408

1400

50 (3.6%)

4

2 (50%)

0.008

NA12717

101

77

7467

1857

93 (5%)

4

1 (25%)

0.2

NA12750

118

89

8623

1972

108 (5.5%)

4

1 (25%)

0.2

NA12751

99

111

7396

2115

97 (4.6%)

5

3 (60%)

0.001

NA12842

182

141

7728

2074

163 (7.9%)

7

2 (28%)

0.1

NA12874

69

129

7297

1738

85 (4.9%)

4

1 (25%)

0.2

Average

96.05

107.75

7510

1820.75

84.9 (4.6%)

5.05

1.45 (29%)

-

  1. For each individual we report the mean coverage in WES and RNA-seq data computed at SNP positions and the number of heterozygous SNPs identified from WES. Then we report the number of genes found available for ASE calculation along with the number of genes identified as ASE genes with corresponding percentages. Finally, we report the number of imprinted genes we found available for ASE calculation, the number of these that are identified as ASE genes and the p-values obtained by testing the significance of proportion of imprinted ASE genes with respect to the overall ASE genes proportion (no test is performed when 0 imprinted ASE genes are detected).