Clinical genome sequencing in an unbiased pediatric cohort

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...

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Detalles Bibliográficos
Autores principales: Thiffault, Isabelle, Farrow, Emily, Zellmer, Lee, Berrios, Courtney, Miller, Neil, Gibson, Margaret, Caylor, Raymond, Jenkins, Janda, Faller, Deb, Soden, Sarah, Saunders, Carol
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752301/
https://www.ncbi.nlm.nih.gov/pubmed/30008475
http://dx.doi.org/10.1038/s41436-018-0075-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752301/
https://www.ncbi.nlm.nih.gov/pubmed/30008475
http://dx.doi.org/10.1038/s41436-018-0075-8

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