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Article

Is gene panel sequencing more efficient than clinical-based gene sequencing to diagnose autoinflammatory diseases? A randomized study.

Clinical and experimental immunology - 1 Jan 2021

Rama M, Mura T, Kone-Paut I, Boursier G, Aouinti S, Touitou I, Sarrabay G

Abstract excerpt

The aim of this study was to compare the effectiveness of the gene-panel next-generation sequencing (NGS) strategy versus the clinical-based gene Sanger sequencing for the genetic diagnosis of autoinflammatory diseases (AIDs). Secondary goals were to describe the gene and mutation distribution in AID patients and to evaluate the impact of the genetic report on the patient's medical care and treatment. Patients...

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Source

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Identifiers

PMID: 32909274
DOI: 10.1111/cei.13511
PMCID: PMC7744495

Genes

MEFV
ADA2
MVK
NLRP3
NOD2
TNFRSF1A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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