PW02-034 - NLRP3 mosaicism detection in CAPS using NGS
نویسندگان
چکیده
Methods Six well-defined mutation-negative CAPS patients were included. In addition two CAPS patients that were identified before as mosaics, by a subcloning and Sanger sequencing method, were included for validation purposes. In short, barcoded whole genome fragment libraries were generated for each patient, enriched for the coding regions of 300 inflammation related genes using a custom Agilent 1M microarray and subsequently sequenced on the SOLiD5500XL platform. Because almost all NLRP3 mutations are located in exon 3 of NLRP3, this exon was analyzed using an in house bioinformatic pipeline, CARTAGENIA BENCH lab NGS and IGV2.2 software.
منابع مشابه
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عنوان ژورنال:
دوره 11 شماره
صفحات -
تاریخ انتشار 2013