Whole-exome sequencing

Sequencing of coding regions of genes associated with known clinical conditions. For the purpose of the analysis, only genes related to the clinical indication ADAR, CA2 COL4A1,CTC1, ERCC6, ERCC8, GALC, IFIH1, MYORG, PDGFB, PDGFRB, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SLC20A2, TREM2, TREX1, TYROBP, XPR1, ISG15, PSMB8, SLC46A1, USP18 were examined

本数据集针对与已知临床病症相关的基因编码区开展测序。本次分析仅针对与临床适应证相关的下述基因进行研究：ADAR、CA2、COL4A1、CTC1、ERCC6、ERCC8、GALC、IFIH1、MYORG、PDGFB、PDGFRB、RNASEH2A、RNASEH2B、RNASEH2C、SAMHD1、SLC20A2、TREM2、TREX1、TYROBP、XPR1、ISG15、PSMB8、SLC46A1、USP18。