Genetic panel screening in patients with clinically unclassified systemic autoinflammatory diseases.

Ferhat Demir Özlem Akgün Doğan Yasemin Kendir Demirkol Kübra Ermiş Tekkuş Sezin Canbek Serife Gül Karadag Hafize Emine Sönmez Nuray Aktay Ayaz Hamdi Levent Doganay Betül Sözeri

Published in: Clinical rheumatology (2020)

The classification criteria described for SAIDs so far unfortunately do not cover all patients with signs of periodic fevers. The NGS gene panel appears to be a useful diagnostic tool for some of the patients with clinically unclassified SAID findings. Key Points • The classification criteria described for SAIDs do not cover all patients with signs of periodic fevers • The use of the undefined SAID nomenclature will benefit clinicians for diagnosis and initiating early treatment • The NGS panel appears to be a useful diagnostic tool in patients with clinically unclassified SAIDs.

Keyphrases

machine learning
deep learning
genome wide
copy number
gene expression
transcription factor