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Description

CanRisk Pedigree Data v3 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.

UK based Ethnic Groups and Background

Ethnic groupEthnic background
White

English/Welsh/Scottish/Northern Irish/British
Irish
Gypsy or Irish Traveller
Any other White background, please describe

Mixed/Multiple ethnic groups

White and Black Caribbean
White and Black African
White and Asian
Any other Mixed/Multiple ethnic background, please describe

Asian or Asian British

Indian
Pakistani
Bangladeshi
Chinese
Any other Asian background, please describe

Black or Black British

African
Caribbean
Any other Black/African/Caribbean background, please describe

Other ethnic group

Arab
Any other ethnic group, please describe

Unknown

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Info
titleExample CanRisk File Header

##CanRisk 3.0
##ethnicity=Black or Black British;African
##Menarche=13
##Parity=1
##First_live_birth=24
##OC_use=C:2
##BMI=27.1
##height=170
##alcohol=5.1
##PRS_BC=alpha=0.45, zscore=1.8
##FamID Name Target IndivID FathID MothID Sex MZtwin Dead Age Yob BC1 ….......

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 27 parameters (data columns) separated by a single TAB (or whitespace) character.

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