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Table 3 Relation between presence of UCEs and gene content

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

  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
  1. 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.
  2. (a) The ratio between observed and expected elements was computed as specified in table 2.