Article
Interpretable Clinical Genomics with a Likelihood Ratio Paradigm.
American journal of human genetics - 3 Sept 2020
Robinson Peter N, Ravanmehr Vida, Jacobsen Julius O B, Danis Daniel, Zhang Xingmin Aaron, Carmody Leigh C, Gargano Michael A, Thaxton Courtney L, Karlebach Guy, Reese Justin, Holtgrewe Manuel, Köhler Sebastian, McMurry Julie A, Haendel Melissa A, Smedley Damian
Abstract excerpt
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 variants. These algorithms do not provide robust estimates of the strength of the predictions beyond the placement in a ranked list, nor do they provide measures...
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