… In summary, reanalysis of negative CES in a research setting … for comprehensive, continued
reanalysis of exome data … a comprehensive strategy for reanalyzing negative exomes as …

… the clinical utility of exome reanalysis by integrating information from electronic medical …
Screening tests, such as a complete blood count (CBC), are often performed iteratively, and …

… , because they significantly reduced the variant analysis burden for each case in the
reanalysis cohort, facilitated a comprehensive literature search based on user-defined patient-…

… reanalyzed exome data with the benefit of up-to-date analysis software and the current literature,
and we applied standard American College of Medical … average over the full time span. …

… We find that upon re-evaluation of undiagnosed patients, both reanalysis of existing ES data
as well … in clinical care, prolonging their diagnostic trajectory, unless systematic reanalysis is …

… This report defines exome reanalysis as the systematic reevaluation of CES data that includes
… on a comprehensive coverage comparison report across the comprehensive exome gene …

… sequencing (ES), and genome sequencing (GS) have received increasing attention and
application in clinical diagnostics, owing to its comprehensive and timely diagnostic capacity. …

… as clinical exome sequencing (cES) and clinical genome … complete search strategy is shown
in Supplemental Table 1. We further manually examined reference lists from short-listed full …

… encompassed clinical exome … reanalysis is a formidable challenge for clinical genetics,
and, to our knowledge, this is the first publication of a systematically implemented reanalysis …

… Since extensive re-analysis per case is beyond the resources of most institutions, we
recommend a screening procedure that would quickly identify the majority (83%) of new variants. …