A genome-wide study of de novo deletions identifies a candidate locus for non-syndromic isolated cleft lip/palate risk

Table 2 The total number of de novo deletions inferred (“count”) and the average number of inferred de novo deletions per child (“average”), stratified by case status and cleft type for both discovery methods

		Controls		Oral clefts		CL		CP		CLP
MD	438	1.12	286	0.61	89	0.64	80	0.62	117	0.59
PennCNV	1,422	3.64	518	1.11	185	1.32	144	1.12	189	0.95
	count	average	count	average	count	average	count	average	count	average

MD: de novo deletions with coverage of at least ten markers inferred by MinimumDistance; PennCNV: de novo deletions with coverage of at least ten markers inferred by PennCNV. CL: cleft lip; CP: cleft palate; CLP: cleft lip and palate. All differences between cleft and control counts are highly significant, assuming independence of deletions (p<10^-6 for all MD comparisons, p<10^-40 for all PennCNV comparisons).

ISSN: 2730-6844