Sensitive and specific detection of mosaic chromosomal abnormalities using the Parent-of-Origin-based Detection (POD) method

Table 1 Informative SNPs for progeny abnormality detection with the POD method

Father	Mother	Child BAF	Potentially abnormal contribution
AA, AB, NC	BB	↓	Paternal
AB,BB, NC	AA	↑	Paternal
AA	AB, BB, NC	↑	Maternal
BB	AA, AB, NC	↓	Maternal

Combinations of genotypes and outlier BAF values provide information content useful for the POD method. Given specific parental genotype combinations, when the child’s BAF value is an outlier of the normal BAF distribution, it may be indicative of a departure from expected biallelic inheritance. The ↑ symbol indicates an unexpected elevation of the child’s BAF value (unexpectedly high proportion of B alleles). The ↓ symbol indicates an unexpected depression of the BAF value (unexpectedly low proportion of B alleles).

ISSN: 1471-2164