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Table 4 Lengths of segments without switches of the trusted set of WGS SNPs for the two phasing strategiesa, whether correctly or wrongly phased or both (all)

From: A strategy to improve phasing of whole-genome sequenced individuals through integration of familial information from dense genotype panels

 

WGS-P1

WGS-P2

All

Correct

Wrong

All

Correct

Wrong

Original segments

 Physical lengthb

  Avg

3.01

2.96

3.07

3.19

6.11

84.99 kb

  Med

4.58 kb

4.75 kb

4.33 kb

3.38 kb

1.74

1 bp

  Max

150.73

150.73

123.75

116.39

116.39

42.76

 Proportion of singletonsc

37.52%

37.53%

37.51%

38.82%

12.18%

67.24%

 Number of phasable SNPs per segment

  Avg

1048.45

1041.75

1055.17

1098.05

2119.04

8.39

  Med

4

4

4

3

644

1

  Max

55,553

55,553

50,217

51,340

51,340

835

 Number of SNPs per segment

  Avg

6232.95

6134.89

6331.09

6612.58

12,639.78

179.99

  Med

12

13

12

8.5

3641

1

  Max

308,884

308,884

240,332

231,051

231,051

85,165

After discarding singletonsc

 Physical lengthb

  Avg

9.48

9.28

9.67

11.02

19.46

0.36

  Med

1.25

1.39

1.12

0.26

6.39

0.01

  Max

154.47

154.47

147.3

147.3

147.3

42.76

 Number of phasable SNPs per segment

  Avg

3185.72

3163.65

3207.84

3652.87

6524.06

28.54

  Med

367

418

314

59

2352

4

  Max

67,776

67,776

60,281

67,776

67,776

1452

 Number of SNPs per segment

  Avg

19,586.14

19,210.75

19,962.22

22,778.53

40,230.9

748.21

  Med

2555

2925.5

2306

523

13,713

15

  Max

318,618

318,618

304,742

304,742

304,742

85,165

After discarding segments with less than five phasable SNPs and shorter than 5 kb

 Physical lengthb

  Avg

14.78

14.46

15.11

19.36

31.64

0.72

  Med

4.62

4.72

4.51

2.28

19.59

0.06

  Max

158.12

158.1

158.12

158.24

158.24

42.76

 Number of phasable SNPs per segment

  Avg

4956.66

4911.73

5001.86

6400.99

10,581.41

53.68

  Med

1489

1584

1401

522

6580

13

  Max

73,348

73,348

60,625

67,776

67,776

1452

 Number of SNPs per segment

  Avg

30,549.61

29,916.85

31,186.28

40,033.57

65,412.51

1499.57

  Med

9884

10,364

9497.5

4913

41,646

138

  Max

327,738

327,706

327,738

327,914

327,914

85,165

  1. A segment is defined as a run of consecutive phasable SNPs without switches
  2. a WGS-P1 phased with LD information only, WGS-P2 phased with both LD and familial information
  3. bUnless specified, all length units are in Mb
  4. c“Singleton” refers to segments that contain only one SNP