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Peer-Reviewed Publication
Genet Med2026;28(5):102549.May 1, 2026Journal Article

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

Yi-Lee Ting1, Trevor J Williams2, Hillery Metz2, Megan Li2, Molly Stetler2, Amy E Knight Johnson2, Brandon D Bunker2, Daniel E Pineda-Alvarez2, Robert D Daber2
1Labcorp (formerly Invitae Corporation), San Francisco, CA. Electronic address: yilee.ting@labcorp.com.
2Labcorp (formerly Invitae Corporation), San Francisco, CA.
PubMed DOI

Abstract

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 indica…

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