PEDIA-Charite / PEDIA-workflow

PEDIA-workflow prioritizes the disease-causing gene by integrating facial analysis and exome sequencing data.
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Fixing multi syndrome in check #54

Closed xiamaz closed 6 years ago

xiamaz commented 6 years ago

Multi syndrome check now tries to reduce number of syndromes by using set comparisons on generated phenotypic series. This should lead to phenotypic series subtypes (containing omim ids from another syndrome) to be merged into the syndrome with a larger or equal amount of ids.

I am still testing to run the entire pipeline. But no config changes should be necessary for these changes.

In check only gestalt score is now being used for comparisons. Pheno, boqa have been removed because of false negatives.

Running the tests requires a populated tests/data directory. Refer to Trello for data.