DNA sequencing data in MDS-patients treated with allogeneic transplantation

The deposited data consists of 47 bam files for targeted DNA sequencing and somatic mutation list called by bulk whole-genome sequencing in patients with myelodysplastic syndromes or related myeloid malignancies who received allogeneic stem cell transplantation. The objective of this data collection was to assess whether somatic mutation can be a marker for detecting early relapse. DNA sequencing was performed to identify somatic mutation candidates using samples collected at diagnosis and also performed for the comparison of the sensitivity of detection between digital droplet PCR and next-generation sequencing. We used three different gene panels for targeted DNA sequencing and the gene lists can be found in the cited Blood paper. Read alignment was performed against the GRCh37. In two patients in whom no recurrent driver mutations were identified, whole genome sequencing was performed. After alignment to GRCh37, somatic mutations were called using Genomon2, and identified somatic mutation list was deposited. The total size of the deposited data is approximately 25 GB (24586652781 bytes).本数据集包含47份用于靶向DNA测序的BAM格式文件，以及来自接受异基因造血干细胞移植的骨髓增生异常综合征（myelodysplastic syndromes）或相关髓系恶性肿瘤患者的批量全基因组测序体细胞突变列表。本数据集的采集目的为评估体细胞突变能否作为早期复发检测的标志物。研究人员利用诊断阶段采集的样本开展DNA测序以筛选体细胞突变候选位点，同时通过该测序对比数字液滴PCR（digital droplet PCR）与下一代测序（next-generation sequencing）的检测灵敏度。本次靶向DNA测序采用了三款不同的基因组合（gene panels），相关基因列表可参见所引用的《Blood》期刊论文。测序读段的比对分析基于GRCh37参考基因组开展。针对2例未检出复发性驱动突变的患者，研究人员额外开展了全基因组测序。在将读段比对至GRCh37参考基因组后，研究人员使用Genomon2工具识别体细胞突变，并将最终得到的体细胞突变列表存入本数据集。本数据集总存储容量约为25 GB（24586652781字节）。