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Table 2 Genotype estimates by GtTR on Illumina WGS data compared with PCR sizing analysis

From: GtTR: Bayesian estimation of absolute tandem repeat copy number using sequence capture and high throughput sequencing

Sample (Coverage)

Methoda

Target_ID

Correlation

VNTR_8

VNTR_32

VNTR_57

VNTR_86

VNTR_87

VNTR_93

VNTR_109

VNTR_112

VNTR_120

NA12877 (30X)

PCR

12.5

21.8

12.1

2.0

7.0

2.0

16.0

3.4

2.0

0.9827

Illumina_WGS

10.6

26.6

13.1

3.0

6.5

2.1

19.6

3.1

2.6

95% HPD interval

(7.94–13.2)

(16.5–36.8)

(9.99–16.2)

(2.12–3.95)

(4.88–8.03)

(1.47–2.8)

(15–24.2)

(1.89–4.29)

(0.784–4.46)

NA12877 (200X)

PCR

12.5

21.8

12.1

2.0

7.0

2.0

16.0

3.4

2.0

0.9756

Illumina_WGS

12.4

29.2

13.2

2.5

7.0

2.3

15.5

3.2

3.0

95% HPD interval

(10.6–14.3)

(22.4–35.9)

(11.2–15.2)

(2–3.05)

(5.89–8.03)

(1.84–2.72)

(12.9–18.1)

(2.32–3.99)

(1.73–4.24)

NA12878 (30X)

PCR

12.0

9.5

11.6

2.0

7.5

2.0

16.0

3.4

2.0

0.9251

Illumina_WGS

12.0

17.2

11.2

2.3

7.5

2.1

21.5

3.6

3.8

95% HPD interval

(9.24–14.8)

(8.72–25.6)

(8.24–14.1)

(1.51–3.06)

(5.74–9.25)

(1.42–2.76)

(16.7–26.4)

(2.18–5.11)

(1.51–6.16)

 

PacBio WGS b

12.0

11.9

11.6

2.5

7.5

2.0

16.3

3.5

3.2

 

NA12879 (30X)

PCR

12.5

9.8

10.5

2.0

8.5

2.0

16.0

2.9

2.0

0.9659

Illumina_WGS

11.9

11.4

12.3

2.2

9.6

2.2

23.2

2.1

3.2

95% HPD interval

(9.06–14.7)

(4.59–18.1)

(9.26–15.4)

(1.48–2.96)

(7.53–11.7)

(1.51–2.79)

(18.2–28.2)

(1.08–3.04)

(1.08–5.31)

NA12889 (30X)

PCR

12.0

22.3

15.6

2.0

8.0

2.0

16.9

3.9

2.0

0.9883

Illumina_WGS

11.1

25.3

18.1

2.6

7.7

2.2

21.4

3.8

3.3

95% HPD interval

(8.47–13.7)

(16–34.5)

(14.4–21.9)

(1.78–3.34)

(5.96–9.37)

(1.55–2.89)

(16.8–26)

(2.37–5.12)

(1.32–5.31)

NA12890 (30X)

PCR

12.5

9.7

10.5

2.0

7.5

2.0

15.1

2.9

2.0

0.9640

Illumina_WGS

12.7

10.9

11.0

2.6

8.2

1.8

22.0

2.8

3.3

95% HPD interval

(9.66–15.8)

(3.96–17.9)

(7.92–14)

(1.72–3.51)

(6.34–10.1)

(1.15–2.47)

(16.9–27)

(1.56–4.02)

(1.05–5.48)

NA12891 (30X)

PCR

12.5

9.3

10.6

2.0

7.0

2.0

15.1

2.9

2.0

0.9570

Illumina_WGS

12.6

9.8

12.6

2.5

7.4

2.1

23.0

2.2

3.5

95% HPD interval

(9.71–15.5)

(3.2–16.4)

(9.43–15.7)

(1.66–3.3)

(5.63–9.1)

(1.42–2.74)

(17.8–28.2)

(1.17–3.27)

(1.29–5.72)

NA12892 (30X)

PCR

12.5

9.8

12.6

2.0

9.0

2.0

16.9

3.9

2.0

0.9704

Illumina_WGS

12.4

11.4

15.6

2.6

9.0

2.1

24.6

3.1

2.6

95% HPD interval

(9.64–15.2)

(4.83–18)

(12.2–18.9)

(1.78–3.44)

(7.12–11)

(1.39–2.8)

(19.5–29.8)

(1.88–4.29)

(0.691–4.45)

  1. aValues for ‘PCR’ refers to the average number of repeats from the two alleles and the values for ‘Capture-Seq’ refers to the genotype estimates determined by the GtTR algorithm
  2. bGenotype estimates from PacBio WGS on NA12878 sample included for comparison