Detection of CNVs in patients with syndromic intellectual disability. Detection of CNVs in patients with syndromic intellectual disability

Illumina whole genome SNP (single nucleotide polymorphism) microarray analysis was carried out on the patient in order to determine copy number variations and to assess their disease etiopathogenesis. Overall design: A SNP-CGH test was carried out on the patient in order to determine copy number variations and to assess their disease etiopathogenesis. This approach consists of three main steps. First, the SNP genotyping consists from DNA amplification,First, the SNP genotyping consists from DNA amplification, fragmentation, precipitation, resuspendation, DNA hybridization on SNP chips, washing, dyeing and scanning of SNP chips. Second, primary analysis of results includes project establishment using Genotyping Module v1.9 software, genome visualisation tool of GenomeStudio™ Genotyping Module v1.9 software and QuantiSNP v2.1 software for determining CNVs. The third step includes biocomputational analysis of CNVs in Genome browser of GenomeStudio™ Genotyping Module v1.9 software and in DGV, Decipher and in others databases.

本研究针对该患者开展了Illumina全基因组单核苷酸多态性（single nucleotide polymorphism，SNP）芯片分析，以检测拷贝数变异并评估其与疾病发病机制的关联。
整体实验设计：本研究对该患者实施SNP-CGH检测，旨在明确拷贝数变异并解析其疾病致病机制。该检测方法主要包含三大核心步骤：第一步为SNP基因分型，具体流程包括DNA扩增、片段化、沉淀、重悬、SNP芯片杂交、洗涤、染色及芯片扫描；第二步为结果初步分析：借助Genotyping Module v1.9软件建立分析项目，通过GenomeStudio™ 基因分型模块v1.9的基因组可视化工具及QuantiSNP v2.1软件完成拷贝数变异的鉴定；第三步为拷贝数变异的生物信息学分析：在GenomeStudio™ 基因分型模块v1.9的基因组浏览器，以及DGV、Decipher等公共数据库中开展相关分析。