The Genome-Wide Array Revolution in Clinical Cytogenetics: From Discoveries to Diagnoses

The introduction of genome-wide array platforms a decade ago has truly revolutionized clinical cytogenetics. The use of these techniques has widened the spectrum of the human genomic variation detected and presented both, unprecedented opportunities as well as challenges. This special issue of Cytogenetic and Genome Research describes the variety of tools used and deals with the challenges relating to the clinical diagnostic implementation of genome-wide array technologies. Furthermore it provides a current overview of the genome-wide array revolution in clinical cytogenetics with an emphasis on approaches to turn discoveries of novel structural genome rearrangements into diagnostically relevant results. This publication will be of benefit to clinical geneticists, general pediatricians and scientists interested in the field of fundamental and clinically applied genetics and genomics.