WGSeq_PreMalignant_DATA_SET_xmas_MB_2013_07_10 - samples

Illumina HiSeq sequence data (with >30x coverage) were aligned to the hg19 human reference genome assembly using BWA (Li and Durbin, 2009); duplicate reads were removed from the final BAM file. No realignment or recalibration was performed. Sample derived from secondary myelodysplastic syndrome (MDS), arising after treatment for medulloblastoma in an 11-year old female Li-Fraumeni syndrome case (LFS-MB1; Rausch et al., 2012; matching WGS data available under EGAS00001000085).EGA dataset EGAD00001000665

本数据集所用的Illumina HiSeq测序数据（测序覆盖度>30×），采用BWA（Burrows-Wheeler Aligner）比对工具（Li与Durbin，2009）比对至hg19人类参考基因组组装版本；最终生成的BAM（Binary Alignment Map）文件中已去除重复读段，未进行序列重比对或质量值重校正操作。该样本来源于11岁女性李-弗劳美尼综合征（Li-Fraumeni syndrome）患者在接受髓母细胞瘤治疗后继发的继发性骨髓增生异常综合征（secondary myelodysplastic syndrome, MDS），样本标识为LFS-MB1（Rausch等，2012）；其匹配的全基因组测序（Whole Genome Sequencing, WGS）数据可通过EGAS00001000085获取。本数据集隶属于EGA数据库，编号为EGAD00001000665。