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Table 2 Loop design test data set.

From: An experimental loop design for the detection of constitutional chromosomal aberrations by array CGH

Experiment

Patient

Deletions/duplications

length

Confirmed with

1

1

deletion on 13

25

karyotyping

 

2

duplication of X (sex mismatch)

149

karyotyping

2

1

duplication of 18

102

karyotyping and FISH

3

1

deletion on 10

6

 
 

2

duplication on 7

20

 
 

3

duplication on 15

43

 

4

2

deletion on 4

15

FISH

 

3

Inversion (p11-q13)

 

karyotyping

5

1

deletion on 12

14

FISH

6

1

deletion on 9

6

 
 

3

deletion on 12

7

 

7

2

duplication on 5

13

 
 

2

deletion on 18

16

 

8

1

duplication on 13

15

FISH

 

1

deletion on 13

12

FISH

 

2

balanced translocation (2;6)(q33,1;p23)

 

karyotyping

9

1

duplication on 7

11

 
 

1

deletion on 7

15

 
 

2

deletion of X (sex mismatch)

158

karyotyping

 

3

duplication on 21

8

 
  1. The nine loop design experiments, listed in the table, will be used as a test data set to compare the two methods, linear model and mixed model. For each aberration present in the experiment the number of deleted or duplicated reporters is indicated.
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BMC Bioinformatics

ISSN: 1471-2105

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