Interpretable Clinical Genomics with a Likelihood Ratio Paradigm.
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DOI: 10.1016/j.ajhg.2020.06.021
Abstract: Human Phenotype Ontology (HPO)-based analysis has become standard for genomic diagnostics of rare diseases. Current algorithms use a variety of semantic and statistical approaches to prioritize the typically long lists of genes with candidate pathogenic… read more here.
Keywords: genomics likelihood; interpretable clinical; likelihood ratio; genomic diagnostics ... See more keywords