Article

Interpretable Clinical Genomics with a Likelihood Ratio Paradigm

2020-01-28

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 o...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: be432d13-c4cf-53fb-a54c-cc56604d8587
DOI: 10.1101/2020.01.25.19014803

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Interpretable Clinical Genomics with a Likelihood Ratio ParadigmDOI 10.1101/2020.01.25.19014803Read

Interpretable Clinical Genomics with a Likelihood Ratio Paradigm.Semantic proximity Read

A robust phenotype-driven likelihood ratio analysis approach assisting interpretable clinical diagnosis of rare diseases.Semantic proximity Read

Phenotype-first patient matching with SimPheny identifies diagnostic candidates beyond curated gene associationsSemantic proximity Read

Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes ProjectSemantic proximity Read

Symptom-driven idiopathic disease gene identification.Semantic proximity Read

Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology.Semantic proximity Read

Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritization.Semantic proximity Read

Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritizationSemantic proximity Read

Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.Semantic proximity Read

Leveraging network analytics to infer patient syndrome and identify causal genes in rare disease cases.Semantic proximity Read

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.Semantic proximity Read

Multiscore, a gene ranker powered by artificial intelligence and real-world clinical data, shows high sensitivity for the molecular diagnosis of Mendelian disorders in nearly 10,000 exomes and genomes.Semantic proximity Read