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Whole exome sequencing in unclassified autoinflammatory diseases: more monogenic diseases in the pipeline?

Rheumatology (Oxford, England) - 1 Feb 2021

Kosukcu Can, Taskiran Ekim Z, Batu Ezgi Deniz, Sag Erdal, Bilginer Yelda, Alikasifoglu Mehmet, Ozen Seza

Abstract excerpt

OBJECTIVE: Autoinflammatory diseases (AIDs) are characterized by recurrent sterile systemic inflammation attacks. More than half of the patients remain genetically undiagnosed with next-generation sequencing panels for common AIDs. In this study, we aimed to define phenotype-genotype correlations in a cohort of unclassified AID patients via whole exome sequencing (WES). METHODS: Patients with features of AIDs...

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Child
Child, Preschool
Exome Sequencing
Genetic Association Studies
Hereditary Autoinflammatory Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Sequence Analysis, DNA

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PMID: 32447396
DOI: 10.1093/rheumatology/keaa165

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