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. 2020 Dec 10;217(1):iyaa014. doi: 10.1093/genetics/iyaa014
Expected: G01100 Observed: G01101
Parent A Observed genotype: 0/0
Possible miscall: 1/1
Focal individual inherits alternate allele from Parent A and transmits it to the child leading to apparent phase violation.
Possible miscall: 0/1
Focal individual inherits the alternate allele from Parent A, giving a 50% chance of transmission to child, leading to apparent phase violation.
Frequency: ½n11101·ε1>0+n21101·ε2>0
Parent B Observed genotype: 0/1
Possible miscall: 0/0
Implies more than one genotyping error across pedigree.
Possible miscall: 1/1
Not detectable as phase violation, as focal individual still inherits alternate allele from Parent B haplotype block.
Focal Observed genotype: 0/1
Any miscall would imply more than one genotyping error.
Partner Observed genotype: 0/0
Possible miscall: 1/1
Child inherits alternate allele from the partner, which appears as a phase violation.
Possible miscall: 0/1
Child inherits alternate allele from the partner, giving a 50% chance of transmission to child, leading to apparent phase violation.
Frequency: ½n01111·ε1>0+ n01121·ε2>0
Child Observed genotype: 0/1
Possible miscall: 0/0
True genotype 0 has been miscalled as 1. Each occurrence leads to this phase violation.
Possible miscall: 1/1
Implies more than one genotyping error across pedigree.
Frequency: n01100·ε0>1