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

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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Bibliographic Details
Main Authors: Guilaine Boursier, Cécile Rittore, Sophie Georgin-Lavialle, Alexandre Belot, Caroline Galeotti, Eric Hachulla, Véronique Hentgen, Linda Rossi-Semerano, Guillaume Sarrabay, and Isabelle Touitou
Format: Article
Language:English
Published: MDPI AG 2019-10-01
Series:Journal of Clinical Medicine
Subjects:
autoinflammatory diseases
multidisciplinary consultation
next-generation sequencing
Online Access:https://www.mdpi.com/2077-0383/8/10/1729

Internet

https://www.mdpi.com/2077-0383/8/10/1729

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