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Article

Exome sequencing early in outpatient evaluation in NCGENES 2: Changing the course of the diagnostic odyssey?

HGG advances - 9 Jul 2026

Roman Tamara S, Gray Shannon M, Sneddon Tam P, Foreman Ann Katherine M, Lee Kristy, Powell Cynthia M, Weck Karen E, Berg Jonathan S, Powell Bradford C

Abstract excerpt

The impact of clinical exome and genome sequencing (ES/GS) depends on the clinical setting. In the sequencing arm of a multifactor randomized clinical trial to evaluate broadening access, we assessed the diagnostic and inconclusive findings of ES as a "first-tier" test in 101 pediatric participants in whom suspicion of a genetic condition by primary care providers had prompted initial outpatient consultation in a...

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Identifiers

PMID: 41935954
DOI: 10.1016/j.xhgg.2026.100605
PMCID: PMC13137186

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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