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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no: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 em: Elsevier 2020
Assuntos:
Article
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados