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Article

Clinical genome sequencing in an unbiased pediatric cohort.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2019

Thiffault Isabelle, Farrow Emily, Zellmer Lee, Berrios Courtney, Miller Neil, Gibson Margaret, Caylor Raymond, Jenkins Janda, Faller Deb, Soden Sarah, Saunders Carol

Abstract excerpt

PURPOSE: We report for the first time, the use of clinical genome sequencing (GS) in an unbiased pediatric cohort. We describe the clinical validation, patient metrics, ordering patterns, results, reimbursement, and physician retrieval of results for the first consecutive 80 cases. METHODS: Clinical GS was performed for both inpatients and outpatients undergoing etiologic evaluations. Results were reported in the...

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Identifiers

PMID: 30008475
DOI: 10.1038/s41436-018-0075-8
PMCID: PMC6752301

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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