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Table 3 Three-way comparison of event calls in trios

From: High resolution discovery and confirmation of copy number variants in 90 Yoruba Nigerians

 

Confirmed loci

McCarroll et al. (2008)

Wang et al. (2007)

Reference events

428

 

338

 

348

 

Calls compared

387

90.4%

328

97.0%

329

94.5%

False negatives

41

9.6%

10

3.0%

19

5.5%

   Missed loss

18

 

7

 

15

 

   Missed gain

23

 

3

 

4

 

Agree with reference

384

99.2%

328

100.0%

329

100.0%

Disagree

3

0.8%

0

0.0%

0

0.0%

Called events

393

 

331

 

333

 

False positves

6

1.5%

3

0.9%

4

1.2%

  1. Twelve Yoruba family trios are common to the Wang et al. [15] and McCarroll et al. [14] studies, and our work. For each comparison, two of the three data sets were used to create a consensus reference. Consensus among the references and agreement with the references were determined by comparing loss versus gain events, and not integer copy numbers. The sample-level calls in each of the three comparisons are listed in Additional data file 4.
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Genome Biology

ISSN: 1474-760X

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