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Table 1 Direct Fawkes conversion. Example of direct conversion from integrated genotypes (Fawkes to CN genotypes. The type-1 homozygous genotypes are converted using information from first-degree relatives with one of those Fawkes calls: heterozygous, null or hemizygous.

From: Partitioning of copy-number genotypes in pedigrees

Fawkes genotypes

 

CN genotypes

 

Undefined

 

-1, -1

-1, -1

 

Heterozygous

 

a, b (a and b ≠ 0)

Aa, Bb

 

Null

 

0, 0

N, N

 

Single hemizygous

 

1, 0

A 1, N

0, 1

B 1, N