Table 2

Analysis of frequencies of UCEs

Size (Mb)

% of genome

No. UCEs

Enrichment ratio a

P-value b

No. Sno/miRNA

Enrichment ratio a


Genome

3107

481

1120

Polymorphic CNVs

23.74

0.76

0

-

0.06

7

0.82

Pathogenic CNVs

82.97

2.67

29

2.26

0.000007

42

1.41

Deletions

47.45

1.53

26

3.55

0.000001

18

1.05

Duplications

35.52

1.14

3

0.54

0.28

24

1.87


Analysis of frequencies of ultraconserved elements (UCEs) among polymorphic and pathogenic CNVs detected in our series of patients. Note that the lack of UCEs among polymorphic CNVs is in the limit of significance, while the excess of UCEs among pathogenic CNV is largely due to those present in deletions. Comparatively, similar analyses of frequencies for microRNAs/snoRNAs do not show significant differences, thus confirming the representativeness of the examined regions.

(a) Enrichment ratio represents the ratio between observed and expected elements. It is calculated as (item count/size of region)/(total items/size of genome).

(b) Chi-square test for goodness of fit.

Martínez et al. BMC Medical Genomics 2010 3:54   doi:10.1186/1755-8794-3-54

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