Phenotype Database Tools

Importing a phenotype database for use with the GPF system is accomplished with the help of two tools. The first tool is given the raw phenotype data - a pedigree file, a directory containing instruments with measures and optionally, a data dictionary. This will produce an SQLite3 database, which can then be utilised with the second tool to produce data that can be used with the GPF Phenotype Browser.

Import a Phenotype Database

To import a phenotype database, you will need the following files:

  • A pedigree file which contains information regarding evaluated individuals and their family.

  • A directory containing instruments in the form of CSV (default) or TSV files (using the -T option).

  • A data dictionary in the form of a TSV file. (Optional)

To import the phenotype database into the GPF system you need to use the tool: \
    -p pedigree.ped \
    -i instruments/ \
    -d data_dictionary.tsv \
    -o output_pheno_db.db
  • -p option allows us to specify the pedigree file;

  • -i option allows us to specify the directory where instruments are located;

  • -d option specifies the name of the data dictionary file for the phenotype database;

  • -o option specifies the name of the output file;

You can use -h option to see all options supported by the tool.

Generate Pheno Browser Data

To generate the data needed for the GPF Phenotype Browser you can use tool. Example usage of the tools is shown below: \
    -d ./pheno_db.db \
    -p pheno_db_name \
    -o browser/pheno_db_name \
    --regression pheno_reg.conf
  • -d option specifies path to already imported phenotype database file;

  • -p option specifies the name of the phenotype database that will be used in phenotype browser;

  • -o option specifies the output directory where all the generated file will be stored;

  • --regression option specifies an absolute path to a pheno regression config file

Measure Classification

In order to be inserted into an SQLite3 database, each measure is classified into one of four types: continuous, ordinal, categorical and raw.

The default non-numeric cutoff value is 6%. That is, a measure with more than 6% non-numeric values will be considered a non-numeric measure.

If a measure does not contain any values, it will be classified as a raw measure.

A numeric measure with 10 or more unique values will be classified as a continuous measure. Numeric measures with less than 10 unique values will be classified as ordinal measures.

Non-numeric measures with between 1 to 15 (including) unique values with a maximum length of 32 characters will be classified as categorical measures.

Any other measure will be classified as a raw measure.

The values which determine measure classification can be tweaked - see the help option of the pheno2dae tool.