Fig. 3

Considerations for resequencing and/or reanalysis in clinical exome sequencing. This figure depicts the considerations for each form of reanalysis, as for each individual case, it must be decided which is most suitable. Reanalysis can be initiated ad hoc or systematically based on selected time intervals or bioinformatic enhancements. Reassessment of variants of unknown significance (VUS) as well as follow-up should be performed first, using up-to-date phenotypic information and literature or additional tests for reinterpretation. When there is no conclusive diagnosis, existing data needs to be suitable for the current analysis pipeline, if not, or if state-of-the-art approaches are available, resequencing should be offered