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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Bibliografiska uppgifter
I publikationen:Am J Hum Genet
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: Elsevier 2020
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Article
Länkar: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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