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Table 3 Statistics for glocal alignment of real human optical maps from GM12878 HapMap cell line

From: OPTIMA: sensitive and accurate whole-genome alignment of error-prone genomic maps by combinatorial indexing and technology-agnostic statistical analysis

Map card

F

Input maps

Details

OPTIMA

Gentig v.2

Increase w.r.t. Gentig v.2

Yield (genome coverage)

Avg. length and size

Avg. digestion rate

Avg. false/extra cut rate

Avg. WHT chi square sizing error

21157LB

(r)

73,365 (7.2X)

Avg. quality 0.50; 295 kbp, 18 f; AFS 16.5 kbp

25 %

9 %

3X

2X

21 f | 324 kbp

66 %

0.74

–0.69

 

(s)

38,483 (4.7X)

Avg. quality 0.53; size 368 kbp, 22 f; AFS 17 kbp

36 %

14 %

2.6X

1.7X

23 f | 361 kbp

65 %

0.73

–0.58

21159LB

(r)

75,761 (7.6X)

Avg. quality 0.47; size 300 kbp, 17 f; AFS 17.4 kbp

19 %

5 %

4X

1.6X

19 f | 325 kbp

63 %

0.72

–1.07

 

(s)

41,236 (5.1X)

Avg. quality 0.50; size 370 kbp, 21 f; AFS 17.8 kbp

27 %

8 %

3.4X

1.3X

21 f | 359 kbp

62 %

0.72

–0.97

21431LB

(r)

93,896 (8.6X)

Avg. quality 0.52; size 274 kbp, 17 f; AFS 15.8 kbp

20 %

8 %

2.6X

1.9X

21 f | 305 kbp

68 %

0.77

–0.42

 

(s)

43,667 (5.1X)

Avg. quality 0.54; size 348 kbp, 21 f; AFS 16.3 kbp

30 %

13 %

2.4X

1.5X

23 f | 343 kbp

67 %

0.77

–0.29

21443LB

(r)

66,857 (6X)

Avg. quality 0.51; size 271 kbp, 17 f; AFS 15.8 kbp

19 %

7 %

2.7X

1.3X

20 f | 299 kbp

67 %

0.77

–0.50

 

(s)

29,991 (3.5X)

Avg. quality 0.53; size 346 kbp, 21 f; AFS 16.3 kbp

29 %

12 %

2.5X

1X

23 f | 340 kbp

66 %

0.77

–0.35

TOTAL

(r)

309,879 (29.4X)

Avg. quality 0.50; size 285 kbp, 17 f; AFS 16.4 kbp

21 %

7 %

2.9X

6.8X

21 f | 314 kbp

66 %

0.75

–0.66

 

(s)

153,377 (18.3X)

Avg. quality 0.52; size 359 kbp, 21 f; AFS 16.9 kbp

31 %

11 %

2.7X

5.5X

23 f | 352 kbp

65 %

0.75

–0.55

  1. Statistics are reported independently for each map card of GM12878 cell line, using: (r) relaxed filtering: ≥ 10 fragments and 150kbp; and (s) stringent filtering: ≥ 12 fragments and 250kbp (as shown in column F). From left to right are reported: the total number of input maps and their coverage in bases of the human genome; further details such as average map quality (provided by the Argus machine), average map size in bases and length in fragments, and average fragment size (AFS); aligned maps by OPTIMA and Gentig v.2; OPTIMA alignment rate increase with respect to Gentig v.2; other OPTIMA alignment statistics