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In 2005, the authors of this article formed an international working group to develop standardized definitions and terms to describe the physical variations used in human phenotypic analyses. This project, which came to be known as the Elements of Morphology, resulted in six articles proposing consensus definitions for almost 400 phenotypic variations of the head and face; periorbital region; ear,...
Next‐generation sequencing (NGS) is the most powerful diagnostic tool since the roentgenogram. NGS will facilitate diagnosis on a massive scale, allowing interrogation of all genes in a single assay. It has been suggested that NGS will decrease the need for phenotyping in general and medical geneticists in particular. We argue that NGS will shift focus and approach of phenotyping. We predict that...
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