The exome sequences of the first series of 250 patients were obtained during 20. The Pareto charts to the right of the bar charts illustrate the breakdown of the interpretive reasons contributing to each new molecular diagnosis, with cumulative counts from each category shown in the bottom axis and the cumulative percentages shown in the top axis. The black segment above the red segment represents the proportion of patients who received a partial diagnosis from reanalysis (two patients in Cohort 1 and five patients in Cohort 2), which is not counted toward the diagnostic yield. The yield alteration originates from patients whose diagnostic molecular findings changed from zero to one or more (new diagnosis, in red in the reanalysis bar), from one to two or more (multilocus pathogenic variation the black segment below the red segment in the reanalysis bar), and from one to zero (overturned molecular diagnosis) (see Supplementary Appendix 1). Panel A (Cohort 1) and Panel B (Cohort 2) depict the change in the molecular diagnostic yield between the original value, evidenced by respective publications, 3,4 and the reanalysis values. Effect of Systematic Reanalysis on Diagnostic Yields in Two Patient Series Referred to Clinical Exome Sequencing. 1,2 We clinically reanalyzed data from two patient series that had undergone diagnostic proband-only exome sequencing. The rapid accrual of knowledge in genomic medicine has prompted the reanalysis of existing data.
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