Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications

ConclusionsWe find that upon re-evaluation of undiagnosed patients, both reanalysis of existing ES data as well as resequencing strategies are needed to identify additional genetic diagnoses. Importantly, not all patients are routinely re-evaluated in clinical care, prolonging their diagnostic trajectory, unless systematic reanalysis is facilitated. We have translated our observations into considerations for systematic and ad hoc reanalysis in routine genetic care.
Source: Genome Medicine - Category: Genetics & Stem Cells Source Type: research