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Article

Diagnostic yield of exome reanalysis over time: Contribution of reevaluation type, timing, and patient phenotype.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 May 2026

Ting Yi-Lee, Williams Trevor J, Metz Hillery, Li Megan, Stetler Molly, Knight Johnson Amy E, Bunker Brandon D, Pineda-Alvarez Daniel E, Daber Robert D

Abstract excerpt

PURPOSE: Exome reanalysis increases diagnostic yield; yet, the optimal cadence remains unclear. We evaluated factors influencing molecular diagnosis (MolDx) during routine 6 month reanalyses. METHODS: Exome data were reanalyzed biannually for 3 years after initial analysis. For each updated report, the timing, reason for update, and diagnostic results were examined. For clarity on clinical indications, we...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41795598
DOI: 10.1016/j.gim.2026.102549

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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