title: Contemporary Approaches for Identifying Rare Bone Disease Causing Genes.
abstract: Recent improvements in the speed and accuracy of DNA sequencing, together with increasingly sophisticated mathematical approaches for annotating gene networks, have revolutionized the field of human genetics and made these once time consuming approaches assessable to most investigators. In the field of bone research, a particularly active area of gene discovery has occurred in patients with rare bone disorders such as osteogenesis imperfecta (OI) that are caused by mutations in single genes. In this perspective, we highlight some of these technological advances and describe how they have been used to identify the genetic determinants underlying two previously unexplained cases of OI. The widespread availability of advanced methods for DNA sequencing and bioinformatics analysis can be expected to greatly facilitate identification of novel gene networks that normally function to control bone formation and maintenance.
authors: Center for Public Health Genomics, University of Virginia, Charlottesville, VA, USA ; Departments of Public Health Sciences and Biochemistry and Molecular Genetics, University of Virginia, Charlottesville, VA, USA.
authors: Charles R
authors: CR
authors: Farber
authors: Department of Orthopaedic Surgery, Johns Hopkins School of Medicine, Baltimore, MD, USA ; Baltimore Veterans Administration Medical Center, Baltimore, Maryland, USA.
authors: Thomas L
authors: TL
authors: Clemens
keywords: bioinformatics; bone restricted ifitm-like protein (Bril); exome sequencing; genome sequencing; osteogenesis imperfect; pigment epithelium-derived factor (PEDF)