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Table 1 F1-score (%) in dataset A experiment-1 and experiment-2 for each tested ROI strategy expressed as mean ± standard deviation (SD) and as median (minimum–maximum). ROI-8 shows the highest F1 mean in both experiments. The high standard deviation is explained by the high rate of false positive variants in the non-KIV-2B samples, which range from mean = 0 with ROI-9 (both experiments 1 and 2) to mean = 152 and mean = 164 with ROI-1 (experiments 1 and 2, respectively). See Additional file 1: Table S4 for performance metrics at the individual level

From: Resolving intra-repeat variation in medically relevant VNTRs from short-read sequencing data using the cardiovascular risk gene LPA as a model

 

Dataset A experiment 1 (in %)

Dataset A experiment-2 (in %)

Mean ± SD

Median (min–max)

Mean ± SD

Median (min–max)

ROI-1

15.7 ± 6.3

16.8 (5.0–25.7)

14.9 ± 6.3

16.2 (4.5–24.6)

ROI-2

42.7 ± 20.7

43.2 (15.4–85.7)

30.9 ± 15.7

30.3 (11.8–62.5)

ROI-3

68.3 ± 21.7

74.7 (28.6–98.0)

69.6 ± 23.6

75.7 (29.6–98.0)

ROI-4

62.1 ± 21.9

68.4 (21.1–80.0)

61.6 ± 22.9

68.0 (21.6–91.4)

ROI-5

68.3 ± 21.7

74.7 (28.6–98.0)

68.0 ± 24.2

74.6 (24.0–98.0)

ROI-6

68.3 ± 21.7

74.7 (28.6–98.0)

70.1 ± 23.2

76.7 (30.8–98.0)

ROI-7

68.3 ± 21.7

74.7 (28.6–98.0)

69.9 ± 23.7

76.7 (29.6–98.0)

ROI-8

81.9 ± 22.4

95.0 (40.0–100.0)

84.4 ± 20.1

96.5 (42.1–100.0)

ROI-9

59.3 ± 28.3

52.6 (25.0–100.0)

53.0 ± 27.9

43.5 (25.0–100.0)