Enrichment of ultraconserved elements among genomic imbalances causing mental delay and congenital anomalies

BMC Medical Genomics

Table 3 Relation between presence of UCEs and gene content

	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.

ISSN: 1755-8794