Structural genomic variation analysis in patients with bone marrow failure using Illumina Infinium SNP Arrays [Omni1-Quad]. Homo sapiens

To better understand the natural history of bone marrow failure syndromes, we analyzed 124 single nucleotide polymorphism arrays (SNP-A) from a comprehensively characterized cohort of 91 patients who had SNP-A for clinical evaluation of BMFS. 67 samples from 51 patients were genotyped with the Quad610, and 57 samples from 54 patients were genotyped with the Omni1-Quad. This submission includes 55 samples from 54 patients that were genotyped with Omni1-Quad. Overall design: Illumina Infinium SNP-A genotyping was performed on DNA extracted from bone marrow aspirates using standard manufacturer's protocol

为深入阐明骨髓衰竭综合征（bone marrow failure syndromes）的自然病程，我们对经全面表型表征的91名患者队列的124份单核苷酸多态性阵列（single nucleotide polymorphism arrays, SNP-A）样本开展分析，上述患者均因骨髓衰竭综合征（BMFS）的临床评估而接受SNP-A检测。其中，51名患者的67份样本采用Quad610芯片完成基因分型，54名患者的57份样本采用Omni1-Quad芯片完成基因分型。本提交数据集包含54名患者的55份经Omni1-Quad芯片分型的样本。总体实验设计：按照厂商标准操作流程，对骨髓穿刺提取的DNA采用Illumina Infinium平台开展SNP-A基因分型检测。