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Table 1 Missing rate and Inconsistency between whole genome sequencing and genome-wide association studies

From: Joint analysis of sequence data and single-nucleotide polymorphism data using pedigree information for imputation and recombination inference

Family ID

Total number of individuals

Missing rate

Genotype inconsistency between GWAS and WGS

 

All

GWAS

WGS

GWAS

WGS

GWAS and WGS

Cause of genotype inconsistency

    

65,500

1,697,985

63,803

Missing in GWAS

Missing in WGS

Mismatch

2

107

86

43

1.18%

2.31%

3.20%

67.55%

29.72%

2.73%

3

98

77

38

0.17%

1.66%

0.84%

19.98%

72.31%

7.71%

4

97

64

39

0.17%

2.34%

1.38%

15.80%

73.59%

10.60%

5

91

68

40

0.13%

1.56%

0.82%

20.41%

72.47%

7.12%

6

88

64

39

0.84%

2.06%

2.07%

59.85%

36.38%

3.77%

7

89

36

30

14.59%

1.58%

17.58%

96.60%

2.95%

0.45%

8

84

68

25

3.31%

2.18%

9.23%

89.44%

9.33%

1.23%

9

81

33

27

13.34%

1.50%

16.38%

96.63%

2.90%

0.47%

10

83

64

40

2.42%

1.86%

4.43%

81.79%

16.71%

1.50%

11

76

35

29

20.57%

1.88%

24.81%

96.92%

2.63%

0.45%

16

59

48

26

0.10%

1.62%

0.82%

14.04%

78.04%

7.93%

17

57

42

20

0.30%

2.58%

1.45%

18.22%

75.43%

6.35%

20

51

36

20

0.36%

2.12%

1.43%

28.55%

65.70%

5.76%

21

50

35

19

0.11%

2.49%

1.26%

4.83%

90.21%

4.96%

27

44

35

17

0.16%

2.22%

1.27%

14.98%

77.98%

7.04%

47

27

22

12

0.09%

2.06%

1.04%

9.89%

84.35%

5.76%

 

1182

813

464

*3.61%

*2.00%

*5.50%

*45.97%

*49.42%

*4.61%

    

^0.72%

^2.08%

^2.25%

^34.26%

^60.17%

^5.57%

  1. Asterisks (*) and Carets (^) indicate averaged numbers across families, with (*) and without (^) families 7, 9, and 11.