title: On not reinventing the wheel.
abstract: An alphabet soup of organizations and initiatives across the world are concerned with identifying, collecting and evaluating disease-causing human gene variants and using them to diagnose and treat rare diseases. Despite increasing standardization of nomenclature and technology, our efforts still need coordination to produce a pipeline leading from discovery to delivery.
mesh_terms: D030541:Databases, Genetic; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D014644:Genetic Variation; D005826:Genetics, Medical / Q000379:methods / Q000639:trends*; D006801:Humans; D010597:Pharmacogenetics / Q000379:methods / Q000639:trends*; D035583:Rare Diseases / Q000235:genetics*; D012958:Societies, Scientific / Q000639:trends; D009626:Terminology as Topic