title: Precision Medicine for Continuing Phenotype Expansion of Human Genetic Diseases.
abstract: Determining the exact genetic causes for a patient and providing definite molecular diagnoses are core elements of precision medicine. Individualized patient care is often limited by our current knowledge of disease etiologies and commonly used phenotypic-based diagnostic approach. The broad and incompletely understood phenotypic spectrum of a disease and various underlying genetic heterogeneity also present extra challenges to our clinical practice. With the rapid adaptation of new sequence technology in clinical setting for diagnostic purpose, phenotypic expansions of disease spectrum are becoming increasingly common. Understanding the underlying molecular mechanisms will help us to integrate genomic information into the workup of individualized patient care and make better clinical decisions.
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, TX 77030, USA.
authors.forename: Hui
authors.initials: H
authors.lastname: Yu
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, TX 77030, USA.
authors.forename: Victor Wei
authors.initials: VW
authors.lastname: Zhang
mesh_terms: D030342:Genetic Diseases, Inborn; D015894:Genome, Human; D023281:Genomics; D006801:Humans; D010641:Phenotype; D057285:Precision Medicine