VarSome Help Center

Segregating variants analysis

The segregating variants analysis falls in the category of algorithmic filters that can be performed on Family trio analyses.

trio

Segregating dominant variants

Variants annotated as pathogenic, likely pathogenic, or of unknown function (but only if one of the strong pathogenic ACMG rules has fired for this variant) that are present (in any zygosity) in all affected samples and absent from all healthy samples.

Segregating recessive variants

Variants annotated as pathogenic, likely pathogenic, or of unknown function (but only if one of the strong pathogenic ACMG rules has fired for this variant) that are homozygous in all affected samples but heterozygous or absent from all healthy samples.

Running the analysis with multiple affected samples

When running it with multiple affected samples, it will look for variants that are homozygous in all affected samples and absent or heterozygous in all healthy samples. The segregating variants (dominant) filter will look for variants that are present (het or hom) in all affected samples and absent in all healthy samples.