Family Cosegregation Analysis

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.

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.

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