3.10.5. Mendel Error

This algorithm computes the Mendel Error status for the child’s genotype. The status is categorized as follows:

  • Untransmitted: The allele was not inherited by the child.

  • Transmitted: The allele was inherited by the child

  • de Novo Allele: The child’s genotype shows a single de Novo mutation that was not present in either parent.

  • MIE: Mendel Inheritance Error. The child’s genotype cannot be explained by mendelian inheritance patterns and is more complex than a single de Novo mutation.

Missing alleles are considered to be reference.

Requirements

Requires a genotype (GT) sample level field.

Requires that the sample have at least one parent

Output

Creates a categorical column on each child sample denoting its Mendel Error status