Description
CanRisk Pedigree Data Files contain the target individual's risk factors (optional) in the header followed by pedigree data (mandatory) as a series of pedigree data records, one for each family member. The following sections describe the format of the File Header and the Pedigree Data records.
File Header
The File Header can optionally include the following breast and/or ovarian cancer risk factors for the target individual:
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† Breast Cancer Risk Factor ‡ Ovarian Cancer Risk Factor
The PRS_BC and PRS_OC values are:
- alpha - the square root of the proportion of the overall polygenic variance explained by the PRS. A real number between 0 and 1.
- zscore – the standard normal PRS.
All header lines begin with '##'. Any missing risk factor variables are taken as unspecified. The risk factors are given as one per line, the variable names can be any case and in any order in the header. The following example header shows the first mandatory header record ##CanRisk 1.0 followed by some of the optional risk factors for the target in the pedigree. The last line in the header is the second mandatory pedigree data column header record beginning ##FamID Name….
| Info | ||
|---|---|---|
| ||
##CanRisk 1.0 |
Pedigree Data
The CanRisk Pedigree Data Format is a simple TAB-delimited text format. CanRisk pedigree data files consist of the two mandatory header records followed by a series of pedigree data records, one for each family member. The pedigree data records include 26 parameters (data columns) separated by a TAB (or whitespace) characterscharacter.
Parameters 1-26 on the pedigree data records are defined as follows:
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