The goal of segregatr is to provide segregation analysis for clinical variant classification.


You can install segregatr from CRAN as follows:


Alternatively, you can obtain the latest development version from GitHub:



We start by loading segregatr:

#> Loading required package: pedtools

The family below shows four brothers, all affected with a rare dominant disease with 90% penetrance and phenocopy rate 1%. The parents have unknown affection status. All four brothers are shown to carry a candidate variant, warranting a segregation analysis. pathogenic variant.

In order to compute the full-likelihood Bayes factor, we first create the pedigree.

x = nuclearPed(4)

Then we run the FLB() function, filling in the necessary data:

FLB(x, carriers = 3:6, aff = 3:6, unknown = 1:2,
    freq = 0.0001, penetrances = c(0.01, 0.9, 0.9), proband = 3)
#> [1] 7.732161

The answer indicates only suggestive evidence for pathogenicity.

Try the segregatr package in your browser

Any scripts or data that you put into this service are public.

segregatr documentation built on April 15, 2021, 9:11 a.m.