Family Cosegregation Analysis - Analyze My Variant

This tool implements various methods of cosegregation analysis for dominant risk inheritance in several hereditary cancer genes. Cosegregation analysis can be used to determine if a variant segregates with a trait more often than expected by chance. References describing each cosegregation method and how to use the results to interpret variants can be found in the background section in the sidebar.

1 Select a pedigree file to upload

Pedigree files can be uploaded in plain text (.txt) or Excel (.xlsx) formats. Ready to run sample pedigree files in text and Excel formats are provided. Please note that file names may only contain numbers, letters, and dashes. Spaces and other special characters in the file name may cause an error. Detailed file formatting instructions and more information can be found in the sidebar.

2 Choose a gene or custom penetrance matrix

Descriptions of penetrance assumptions for each gene can be found in the sidebar. To use your own custom penetrance matrix, select the last option.

Select a custom penetrance file to upload

Here (Plain Text or Excel) is the BRCA1 penetrance file which can be used without modification. Click here for more information about formatting custom penetrance files.

3 Analyze Pedigree