The Validation of a Diagnostic Exome Sequencing Service for the Investigation of Monogenic Disorders

Background: OMIM currently records 8,498 monogenic disorders, the overwhelming majority of which result from mutations affecting the coding regions of the human genome, i.e. the exome. For relatively non-specific phenotypes, gene-by-gene Sanger sequencing has a low diagnostic rate of 3–8%, whereas the reported diagnostic rate of exome sequencing is 25–35%.1,2 Access to accredited exome sequencing services is currently limited in Australia, forcing clinicians to access research facilities.