This tool was created for use with Agena MassARRAY genotyping but may also be applicable to other genotyping assays. It rapidly assesses the Mendelian consistency of SNP genotypes in duos (parent and proband) before whole genome sequencing. The tool displays allele bases in Sanger sequencing colors (A: green, T: red, G: black, C: blue) and categorizes each SNP as follows:

C (Consistent): The proband’s genotype matches one of the valid allele combinations inherited from the parent.
E (Error): The proband’s genotype does not match any possible parental combination, flagging a potential misidentification.
U (Uninformative): Either parent and proband are heterozygous for the same allele and the proband matches; while inheritance is confirmed, the marker provides little discriminatory power.
This tool enables early detection of sample mix-ups, ensuring that only properly identified samples proceed to the costly process of  sequencing. This tool has not been validated and it is investigational use only.