Systematic identification of phenotypically enriched loci using a patient network of genomic disorders

BMC Genomics

Table 1 Population dataset descriptions

	All patients	Cases	Control
Samples	10,324	6,564	5,072^b
Identified CNVs	14,226^a	9,186	495,916
Type of CNVs:
Loss	7,554	5,101	343,489
Gain	6,672	4,085	152,427
Average CNV length (Kb)	3,336	3,014	31
Type of inheritance:
De novo constitutive	14,501	2,454
Inherited from normal parent	9,345	1,945
Inherited from parent with similar phenotype to child	1,345	240
Unknown	21,946	3,638

The table shows genotyped patients in DECIPHER database (All), the genotyped and phenotyped patients from DECIPHER used in this work (Cases) and the healthy individuals from the DGV repository (Control). The first column indicates the distribution of data based on number of individuals, number and type of CNVs and their type of inheritance. ^a This is a pre-selection of CNVs from DECIPHER that are potentially pathogenic. ^b This number does not correspond to individual samples

ISSN: 1471-2164