Table 1 Genotype calls by GtTR using NA12878 Pacbio reference on targeted capture sequencing data compared with PCR sizing analysis

NA12877

PCR

12.5

21.8

12.1

2.0

7.0

2.0

16.0

3.4

2.0

Capture_Seq

11.5

28.4

13.5

2.7

6.1

2.1

16.2

3.7

3.4

95% HPD interval

(10.2–12.8)

(18.8–38)

(11.9–15.2)

(2.07–3.33)

(5.43–6.7)

(1.76–2.52)

(14.4–18)

(3–4.35)

(2.41–4.38)

NA12878^b

PCR

12.0

9.5

11.6

2.0

7.5

2.0

16.0

3.4

2.0

Capture_Seq

12.1

9.9

13.5

2.6

7.8

2.3

17.6

3.8

3.5

95% HPD interval

(10.9–13.3)

(5.5–14.7)

(12.1–15)

(2.12–3.14)

(7.1–8.41)

(1.97–2.69)

(16–19.2)

(3.19–4.35)

(2.64–4.36)

PacBio WGS ^c

12.0

11.9

11.6

2.5

7.5

2.0

16.3

3.5

3.2

NA12879

PCR

12.5

9.8

10.5

2.0

8.5

2.0

16.0

2.9

2.0

Capture_Seq

12.6

11.7

14.4

2.6

8.2

2.0

16.3

3.2

3.0

95% HPD interval

(11.3–14)

(6–17.4)

(12.8–16)

(2.09–3.18)

(7.44–8.92)

(1.65–2.32)

(14.6–17.9)

(2.68–3.8)

(2.12–3.81)

NA12889

PCR

12.0

22.3

15.6

2.0

8.0

2.0

16.9

3.9

2.0

Capture_Seq

11.1

27.0

20.3

2.2

7.7

2.2

21.3

4.1

3.4

95% HPD interval

(9.97–12.3)

(18.5–35.5)

(18.3–22.4)

(1.73–2.63)

(7.01–8.36)

(1.8–2.5)

(19.4–23.2)

(3.45–4.68)

(2.55–4.33)

NA12890

PCR

12.5

9.7

10.5

2.0

7.5

2.0

15.1

2.9

2.0

Capture_Seq

13.5

10.3

11.6

2.2

7.2

2.2

13.4

3.1

3.0

95% HPD interval

(12.1–14.9)

(5.01–15.6)

(10.2–13)

(1.79–2.72)

(6.52–7.87)

(1.85–2.58)

(12–14.8)

(2.52–3.62)

(2.13–3.85)

NA12891

PCR

12.5

9.3

10.6

2.0

7.0

2.0

15.1

2.9

2.0

Capture_Seq

11.7

10.4

12.1

2.6

6.8

2.1

16.2

3.1

3.5

95% HPD interval

(10.6–12.8)

(5.87–14.9)

(10.8–13.3)

(2.14–3.08)

(6.23–7.36)

(1.79–2.42)

(14.8–17.6)

(2.61–3.52)

(2.65–4.25)

NA12892

PCR

12.5

9.8

12.6

2.0

9.0

2.0

16.9

3.9

2.0

Capture_Seq

11.0

8.8

12.9

3.0

8.4

2.3

18.3

4.0

3.4

95% HPD interval

(9.85–12.2)

(3.88–13.8)

(11.4–14.3)

(2.36–3.58)

(7.63–9.1)

(1.93–2.7)

(16.5–20.1)

(3.33–4.6)

(2.43–4.27)