Positive Impact of Expert Reference Center Validation on Performance of Next-Generation Sequencing for Genetic Diagnosis of Autoinflammatory Diseases

Monogenic autoinflammatory diseases (AIDs) are caused by variants in genes that regulate innate immunity. The current diagnostic performance of targeted next-generation sequencing (NGS) for AIDs is low. We assessed whether pre-analytic advice from expert clinicians could help improve NGS performance...

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Detalhes bibliográficos
Publicado no:J Clin Med
Main Authors: Boursier, Guilaine, Rittore, Cécile, Georgin-Lavialle, Sophie, Belot, Alexandre, Galeotti, Caroline, Hachulla, Eric, Hentgen, Véronique, Rossi-Semerano, Linda, Sarrabay, Guillaume, Touitou, Isabelle
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6832712/
https://ncbi.nlm.nih.gov/pubmed/31635385
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/jcm8101729
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