Abstract
During advances in clinical psychiatry and neurology, a part of "disorder" : an entity of functional abnormality characterized with specific symptoms and social disabilities regardless of its pathomechanism, has sometimes been re-defined as " disease" : an entity of impaired condition based upon a known etiology. These re-definitions had often been achieved by an innovation in histological, brain imaging and/or biochemical testings, and such dissection of a "disease" from a "disorder" has been accelerated by recent technological breakthrough in genome analysis, i.e. next-generation sequencing. For example, large-scale studies have discovered that ~0.1-1% of autism spectrum disorder and schizophrenia patients diagnosed with operational diagnostic criteria can be solely explained by loss-of-function mutations in CHD8 and SETD1A, respectively. In this article, findings from these studies as well as strategies to facilitate such discoveries and appropriate interpretation of genomic findings are overviewed.
