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The Application of Whole-Exome Sequencing in Patients With FUO
Wanru Guo1, Xuewen Feng1, Ming Hu1
1State Key Laboratory for Diagnosis and Treatment of Infectious Diseases, National Clinical Research Center for Infectious Diseases, Collaborative Innovation Center for Diagnosis and Treatment of Infectious Diseases, The First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, China.
Background:
Fever of unknown origin (FUO) is still a challenge for clinicians. Next-generation sequencing technologies, such as whole exome sequencing (WES), can be used to identify genetic defects in patients and assist in diagnosis. In this study, we investigated the application of WES in individuals with FUO.
Methods:
We performed whole-exome sequencing on 15 FUO patients. Clinical information was extracted from the hospital information system.
Results:
In 7/15 samples, we found positive results, including potentially causative mutations across eight different genes: CFTR, CD209, IRF2BP2, ADGRV 1, TYK2, MEFV, THBD and GATA2.
Conclusions:
Our results show that whole-exome sequencing can promote the genetic diagnosis and treatment of patients with FUO.
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