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Table 2 Informative SNPs for parental abnormality detection with the POD method

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

Child

Parent 1

Parent 2 BAF

AB

BB

↑

AB

AA

↓

AA

AA, AB, NC

↑

BB

AB, BB, NC

↓

  1. The POD method can also be employed to detect parental abnormalities. Given specific genotype combinations between a parent and child, when the other parent’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 BAF value (unexpectedly high proportion of B alleles). The ↓ symbol indicates an unexpected depression of the BAF value (unexpectedly low proportion of B alleles).