Efficacy and economics of targeted panel versus whole exome sequencing in 878 patients with suspected primary immunodeficiency

BACKGROUND: NGS has become a first-line tool for diagnosis of PID. However, patient access remains limited due to restricted insurance coverage and a lack of guidelines addressing use of targeted panels vs WES. OBJECTIVES: To compare targeted next generation sequencing (NGS) with whole exome sequenc...

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Bibliografiske detaljer
Udgivet i:J Allergy Clin Immunol
Main Authors: Platt, Craig D., Zaman, Fatima, Bainter, Wayne, Stafstrom, Kelsey, Almutairi, Abuarahman, Reigle, Margot, Weeks, Sabrina, Geha, Raif S., Janet, Chou
Format: Artigo
Sprog:Inglês
Udgivet: 2020
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7870529/
https://ncbi.nlm.nih.gov/pubmed/32888943
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jaci.2020.08.022
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