Exome Sequencing and Clinical Diagnosis
Jan M. Friedman, Kenneth Lyons Jones, John C. Carey
Abstract
This Viewpoint describes indications and proper clinical use and interpretation of exome sequencing, explaining that the testing is not diagnostic in itself but requires correlation with patients’ history and presentation in the context of a comprehensive clinical evaluation.
Topics & Concepts
MedicineExome sequencingContext (archaeology)Presentation (obstetrics)ExomeMedical physicsMutationGeneticsSurgeryBiologyGenePaleontologyGenomics and Rare DiseasesGenomic variations and chromosomal abnormalitiesGenetic factors in colorectal cancer