title: Exome sequencing a review of new strategies for rare genomic disease research.
abstract: The journey related to genomic information access and utilization by researchers and clinicians has barely begun to be travelled. There remains a broad horizon in the research and clinical arenas for fulfillment of that journey. Exciting is the potential depth and breadth of research, clinical applications, and more personalized medicine, that remain on the horizon. Exome sequencing has clarified the responsibilities of over 130 genes, greatly expanding the medical genetics database and enabling the development of orphan disease-based pharmaceuticals. Our research focus was to review >50 literature sources that related to rare genomic disease research and exome sequencing, as well as the new research and diagnostic strategies that were utilized. Using a systems approach, under discussion are ciliopathy, dermatology, otorhinolaryngology, immunology, gastroenterology, hematopoiesis, metabolic diseases, and the cardiovascular system. Also discussed are genetic, syndromic, and mitochondrial exome research. Recommendations for future research will also be discussed.
authors.affiliation: Department of Neurology, Columbia University, USA. Electronic address: tbrown@post.harvard.edu.
authors.forename: Tony L
authors.initials: TL
authors.lastname: Brown
authors.affiliation: Major General Hugh G. Robinson Center for Neuropsychiatric Studies.
authors.forename: Theresa M
authors.initials: TM
authors.lastname: Meloche
mesh_terms: D059472:Exome; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods*; D015894:Genome, Human; D006801:Humans; D057285:Precision Medicine / Q000379:methods*; D035583:Rare Diseases / Q000235:genetics*; D017422:Sequence Analysis, DNA / Q000379:methods
keywords: Diagnosis; Exome sequencing; Genetics; Genome; Genomics; Personalized medicine; Rare disease