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WA - phenotype driven gene prioritization algorithm

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WA

WA is an evidence-based gene prioritization algorithm based on a Bayesian diagnostic model. WA uses only proband phenotype and the HPO ontology to provide the prioritization.

Running WA

Most users should download the latest WA distribution from the Releases page unpack, and run it.

Preprint

Preprint of the paper describing WA is available here.

Help

For help and instructions on using the program, run WA without arguments.

Example of gene prioritization

After unpacking WA, try to prioritize the top 10 most likely pathogenic genes of the proband by enumerating the HPO codes of his phenotype, e.g.:

java -jar WA.jar -m 10 HP:0002376 HP:0002353 HP:0002240 HP:0010780 HP:0010729 HP:0001250

The result of prioritizing the genes is presented in an Excel heatmap. The column values can be interpreted as votes of a proband's phenotypic sign for the pathogenicity of the genes (see section 2.6 of the preprint for the details).

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