Article

Phenogenon: Gene to Phenotype Associations for Rare Genetic Diseases

2018-07-11

Abstract excerpt

As genome sequencing is increasingly applied to molecular diagnosis of rare Mendelian disorders, large number of patients with diverse phenotypes have their genomic and phenotypic data pooled together to uncover new genotype - phenotype relations. We introduce Phenogenon, a method that combines: the power of Human Phenotype Ontology for describing patient phenotypes, gnomAD for estimating rare variant population f...

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Literature Corpus work: e040b232-e741-548a-90cb-adfc82bafe72
DOI: 10.1101/367292

Open publication

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