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Table 7 Number of CNVs identified by the modified ExomeDepth pipeline at every stage

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

ID

Number of CNVs identified by the default pipeline

Number of CNVs identified by the modified pipeline

Number of reproducible CNVs (> 850 iterations)

Number of CNVs in OMIM disease genes

Number of diagnostic CNVs relevant to the patient phenotype

1

137

47

27

3

1

2

152

54

33

1

1

3

163

54

26

1

1

4

174

53

26

1

1