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Pedigree Generation Service

Input File Specification

The Pedigree input information provided to the web service is in the form of rows and columns.

The following columns are mandatory i.e. required. The web service will not generate pedigree drawings if any of these fields are missing.

  • FamilyID - A unique number to identify a family.
  • IndividualID - A unique number to identify an individual.
  • Gender - Sex of the individual (M/F/U)
  • Father - Individual ID of the father of the individual represented in the row.
  • Mother - Individual ID of the mother of the individual represented in the row.

The following columns are not mandatory, but can affect how an individual is drawn in the Pedigree.

  • Proband - Valid values (y/Y, or n/N).
  • Deceased - Valid values (y/Y, or n/N).
  • Affected - Specify the disorder with which the individual is affected.
  • mztwin - Identify if an individual is a member of a monozygotic twin. The value must be a single character between (A-Z or a-z).
  • dztwin - Identify if an individual is a member of a dizygotic twin. The value must be a single character between (A-Z or a-z).

You may include additional columns, however information in these columns can only be shown as labels under an individual.

Notes:

  1. The familyid column must be the first column in the input file.
  2. The input file may be a comma-separated or tab-separated file.
  3. The individual information contained in the columns should not contain the delimiter i.e. comma, or TAB.

Understanding Information in Debug Section

When the user clicks the Generate button, the debug section shows the status of the overall Pedigree generation process.

At the end of the process, the service displays a table with the following columns, where each row represents a family.

  • Family ID - Family ID as read from the input file and corresponding *log file
  • Individuals in Input - No. of individuals for whom a record was found in the input file
  • Individuals Plotted - No. of individuals that were rendered in the PDF report for the family
  • Duplicated Individuals - The Pedigree service may plot the same individual multiple times, if it is not possible to plot the pedigree in an easy to understand format
  • Dummy Individuals - The Pedigree service may add dummy individuals, to incomplete pedigrees. Example: If the input only contains information for one parent, and a child, the service would add a dummy individual to representing the missing parent
  • *Log File - Logs generated during the process of plotting the pedigree. The logs can contain
    • Warnings such as unconnected individual (An individual identified as part of a family, but with no relationships specified to other family members
    • Errors where the service is unable to identify the family's founding members

The table may show some records in marked in red, indicating a possible issue with the data. Such issues are detected due to inconsistency between the no. of individual in input, and no. of individual plotted. Duplicate individuals, and dummy individuals are also accounted for when detecting these inconsistencies.

References