title: Whole-exome sequencing as a diagnostic tool: current challenges and future opportunities.
abstract: Whole-exome sequencing (WES) represents a significant breakthrough in the field of human genetics. This technology has largely contributed to the identification of new disease-causing genes and is now entering clinical laboratories. WES represents a powerful tool for diagnosis and could reduce the 'diagnostic odyssey' for many patients. In this review, we present a technical overview of WES analysis, variants annotation and interpretation in a clinical setting. We evaluate the usefulness of clinical WES in different clinical indications, such as rare diseases, cancer and complex diseases. Finally, we discuss the efficacy of WES as a diagnostic tool and the impact on patient management.
authors.affiliation: Department of Human Genetics, McGill University, Montreal, QC H3A 1B1, Canada.
authors.forename: Martine
authors.initials: M
authors.lastname: Tetreault
authors.forename: Eric
authors.initials: E
authors.lastname: Bareke
authors.forename: Javad
authors.initials: J
authors.lastname: Nadaf
authors.forename: Najmeh
authors.initials: N
authors.lastname: Alirezaie
authors.forename: Jacek
authors.initials: J
authors.lastname: Majewski
mesh_terms: D019468:Disease Management; D059472:Exome; D023281:Genomics / Q000379:methods / Q000592:standards; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D025202:Molecular Diagnostic Techniques / Q000379:methods / Q000592:standards; D009369:Neoplasms / Q000175:diagnosis / Q000235:genetics; D035583:Rare Diseases / Q000175:diagnosis / Q000235:genetics
keywords: cancer; diagnostic; rare diseases; variants detection; whole-exome sequencing