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Table 16 Root mean squared error (RMSE) between the gold standard and estimated STR sizes with allelotype using the original BAM file for NA12878 from HiSeq 2000 and those realigned with STR-realigner, ReviSTER, GATK IndelRealigner, and allelotype with --realign option for all the STR regions

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

Period

No. of regions

STR-realigner

ReviSTER

IndelRealigner

--realign option

Original BAM

1

5345

2.298

2.294

2.354

2.296

2.298

2

1160

3.152

3.293

3.265

3.243

3.129

3

517

2.033

2.039

2.034

2.038

2.034

4

1433

2.453

2.582

2.687

2.600

2.454

5

668

3.033

3.006

3.271

3.008

3.031

6

472

2.698

2.739

2.765

2.739

3.090

Total

9595

2.503

2.542

2.607

2.538

2.521

  1. For the gold standard, STR sizes estimated from high coverage PacBio sequencing data with allelotype are used. The best result is underlined