Fig. 1

Selected articles types. Review: the authors do not report directly on the way they personally use WES, but rather review the current body of evidence about a certain aspect of the technology. Application: authors report on the application of WES on a specific patient, family, or a larger group of patients in a healthcare service. Data analysis: authors focus on challenges linked with WES data processing, analysis and interpretation. Efficiency: authors compare the efficiency of WES compared to other techniques, such as gene or gene panels sequencing. Report: authors report on the use of a technology other than WES, and explain this choice by identifying challenges with WES