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Table 6 Lengths of segments without switches obtained with WGS SNPs selected with more traditional filtering rules 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

0.50

0.49

0.50

0.51

0.99

0.04

  Med

346 bp

297 bp

404 bp

396 bp

223.51 kb

1 bp

  Max

34.88

34.88

21.33

25.64

25.64

14.65

 Proportion of singletonsc

40.76%

41.05%

40.48%

40.61%

16.11%

65.31%

 Number of phasable SNPs per segment

  Avg

373.70

370.72

376.69

384.98

758.49

8.40

  Med

2

2

2

2

131

1

  Max

29,712

29,712

26,646

32,839

32,839

1813

 Number of SNPs per segment

  Avg

2618.11

2593.29

2642.94

2704.68

5179.74

209.22

  Med

4

4

4

4

1228.5

1

  Max

158,630

158,630

113,469

134,130

134,130

84,929

After discarding singletonsc

 Physical lengthb

  Avg

1.88

1.87

1.9

1.94

3.64

0.19

  Med

0.05

0.05

0.05

0.03

1.04

1.92 kb

  Max

63.16

55.98

63.16

85.72

85.72

31.87

 Number of phasable SNPs per segment

  Avg

1335.70

1325.27

1346.13

1373.47

2675.79

28.52

  Med

14

14

14

10

659

3

  Max

74,067

57,000

74,067

97,334

97,334

2787

 Number of SNPs per segment

  Avg

9895.56

9823.59

9967.51

10,208.87

19,121.57

1004.46

  Med

255

241

266

153

5657

13

  Max

325,812

293,893

325,812

437,121

437,121

141,991

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

 Physical lengthb

  Avg

4.34

4.31

4.36

4.84

8.84

0.50

  Med

0.95

0.95

0.95

0.44

3.52

494.45 kb

  Max

121.41

121.41

116.11

121.41

121.41

33.07

 Number of phasable SNPs per segment

  Avg

3045.22

3024.33

3066.06

3388.28

6444.96

69.46

  Med

318

310.5

325

78

2311

10

  Max

110,344

110,344

86,208

112,056

112,056

2793

 Number of SNPs per segment

  Avg

22,773.56

22,633.66

22,913.14

25,438.65

46,480.17

2592.66

  Med

4951

4939

4971

2206

19,046

254

  Max

605,700

605,700

601,045

653,272

653,272

160,715

  1. A segment is defined as a run of consecutive phasable SNPs without switches
  2. aWGS-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