Interpretable Clinical Genomics with a Likelihood Ratio Paradigm

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 robu...

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Publicado en:Am J Hum Genet
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado: Elsevier 2020
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7477017/
https://ncbi.nlm.nih.gov/pubmed/32755546
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2020.06.021
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