A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data

Table 2 Filtering cascade to create a list of high-quality true-positive CNVs from the SNP arrays

Filtering cascade	Autosomal				Chromosome X					Total
	Loss		Gain		Loss			Gain
	Het	Hom	Dup	Trip	Het	Hom	Hemi	Dup	Trip
All	5166	194	1062	7	103	5	12	84	1	6634
CNVs with ≥ 10 probes	527	11	411	6	17	3	2	35	1	1013
CNVs with an overlapping exon and a bait	170	6	268	4	8	0	2	28	1	487
Refined true positives	165	6	266	4	7	0	2	28	1	479

Het heterozygous, Hom homozygous, Hemi hemizygous, Dup duplication, Trip triplication

ISSN: 1756-994X