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Table 3 Root mean squared error (RMSE) between true and estimated repeat numbers with RepeatSeq using the original BAM file of 40 × and those realigned with STR-realigner, ReviSTER, and GATK IndelRealigner for commonly called STR regions. The best result is underlined

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

Period

No. of regions

STR-realigner

ReviSTER

IndelRealigner

Original BAM

1

4659

3.858

2.718

8.694

8.891

2

900

2.471

4.815

8.735

9.084

3

410

2.402

3.265

8.548

8.930

4

1084

3.152

4.428

9.688

9.796

5

536

3.600

5.855

10.219

10.422

6

399

2.248

5.593

10.498

10.793

Total

7988

3.484

3.741

9.038

9.253