NextGen sequencing (NGS) panel for hereditary recurrent fevers: mutation spectrum, novel mutations, and evidence for re-classification of common variants based on analysis of >3000 cases from North America
نویسندگان
چکیده
Methods The HRF panel includes MEFV, MVK, NLRP3, TNFRSF1A, PSTPIP1, LPIN2 and ELANE, which are associated with familial Mediterranean fever (FMF), hyper-IgD syndrome, cryopyrin-associated periodic syndrome, tumor necrosis factor receptor-associated periodic syndrome (TRAPS), pyogenic sterile arthritis-pyoderma gangrenosum and acne syndrome, Majeed syndrome, and cyclic/severe congenital neutropenia, respectively. It utilizes a multiplex PCR approach, followed by NGS on HiSeq 2000/2500 instruments, and variant analysis using a custom-developed analysis pipeline.
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