Predicting genes from phenotypes using human phenotype ontology (HPO) terms.
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DOI: 10.1007/s00439-022-02449-6
Abstract: The interpretation of genomic variants following whole exome sequencing (WES) can be aided using human phenotype ontology (HPO) terms to standardize clinical features and predict causative genes. We performed WES on 453 patients diagnosed prior… read more here.
Keywords: using human; class; gene; hpo terms ... See more keywords