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Table 13 The numbers of estimated repeat numbers matched and mismatched with parents in terms of Mendelian inheritance

From: STR-realigner: a realignment method for short tandem repeat regions

Period

STR-realigner

ReviSTER

IndelRealigner

Original BAM

 

#CR

#IR

#CR

#IR

#CR

#IR

#CR

#IR

1

1305

533

1319

540

1314

531

1298

531

 

(1,416)

(563)

      

2

280

82

269

80

242

90

242

87

3

63

5

56

7

56

6

57

5

4

196

28

183

34

169

38

169

33

5

41

15

46

18

44

16

44

15

6

35

9

34

12

33

13

33

13

Total

1920

672

1907

691

1858

694

1843

684

  1. The number of consistent regions (#CR), and the number of inconsistent regions (#IR) based on estimated repeat numbers with RepeatSeq in a parent-offspring trio, NA12878, NA12891 and NA19892, for the original BAM files, those realigned with STR-realigner, ReviSTER, and GATK IndelRealigner are summarized. Values in parentheses for STR-realigner are the result without filtering long homopolymer regions. The best result is underlined