Improved exome prioritization of disease genes through cross-species phenotype comparison

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Figure 2.
Figure 2.

Phenotype matching algorithm. The user enters a human phenotype, either as an OMIM disease or as a list of HPO terms. All genes with variants that survive the initial filtering steps are then screened for mouse models with phenotypic similarity to the human disease. Similarity is calculated based on the semantic similarity of individual phenotypic features as described previously (Smedley et al. 2013).

This Article

  1. Genome Res. 24: 340-348

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