| |
Size (Mb)
|
No. Gene annotations (RefSeq)
|
Enrichment ratio a
|
No. Gene annotations (CCDS)
|
Enrichment ratio a
|
|---|
|
Genome
|
3107
|
33,244
| |
19,841
| |
|
Pathogenic CNVs with UCEs
|
56.591
|
488
|
0.81
|
311
|
0.86
|
|
Pathogenic CNVs without UCEs
|
26.384
|
781
|
2.76
|
477
|
2.83
|
- When comparing the observed/expected ratio of gene content in pathogenic imbalances attending to the presence or not of ultraconserved elements, it results evident that only pathogenic CNVs without UCEs show an excess of gene content. Consequently we can reject that the enrichment of UCEs in clinically relevant CNVs are due to a higher gene content.
- (a) The ratio between observed and expected elements was computed as specified in table 2.
