Reconstructing CNV genotypes using segregation analysis: combining pedigree information with CNV assay

Table 3 Copy number probabilities and penetrance values for an assay value of 0.675

Copies	3	4	5	6	7	8	9
Probability	0.000	0.000	0.000	0.838	0.159	0.003	0.000
Penetrance Values
		Copy number allele from dam
		A ^c1	A ^c2	A ^c3	A ^c4	A ^c5	A ^c6
Copy number allele from sire	A ^c1	0.000	0.000	0.000	0.000	0.838	0.159
	A ^c2	0.000	0.000	0.000	0.838	0.159	0.003
	A ^c3	0.000	0.000	0.838	0.159	0.003	0.000
	A ^c4	0.000	0.838	0.159	0.003	0.000	0.000
	A ^c5	0.838	0.159	0.003	0.000	0.000	0.000
	A ^c6	0.159	0.003	0.000	0.000	0.000	0.000

The CV of the assay was assumed to be 3%; the penetrance values are proportional to the probability of an assay value of 0.675 given the genotype

ISSN: 1297-9686