Article
The role of phenotype-based search approaches using public online databases in diagnostics of Mendelian disorders.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2021
Fellner Avi, Ruhrman-Shahar Noa, Orenstein Naama, Lidzbarsky Gabriel, Shuldiner Alan R, Gonzaga-Jauregui Claudia, Brown-Shalev Hadar, Hagari-Bechar Ofir, Bazak Lily, Basel-Salmon Lina
Abstract excerpt
PURPOSE: To investigate the effectiveness of phenotype-based search approaches using publicly available online databases. METHODS: We included consecutively solved cases from our exome database. For each case, the combination of Human Phenotype Ontology terms reported by the referring clinician was used to perform a search in three commonly used databases: OMIM (first 300 results), Phenolyzer (first 300 results),...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.