| | 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.
