Article
GenomeDiver: a platform for phenotype-guided medical genomic diagnosis.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2021
Pearson Nathaniel M, Stolte Christian, Shi Kevin, Beren Faygel, Abul-Husn Noura S, Bertier Gabrielle, Brown Kaitlyn, Diaz George A, Odgis Jacqueline A, Suckiel Sabrina A, Horowitz Carol R, Wasserstein Melissa, Gelb Bruce D, Kenny Eimear E, Gagnon Charles, Jobanputra Vaidehi, Bloom Toby, Greally John M
Abstract excerpt
PURPOSE: Making a diagnosis from clinical genomic sequencing requires well-structured phenotypic data to guide genotype interpretation. A patient's phenotypic features can be documented using the Human Phenotype Ontology (HPO), generating terms used to prioritize genes potentially causing the patient's disease. We have developed GenomeDiver to provide a user interface for clinicians that allows more effective...
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