50_ID_WGS_CG_DESC_BvB58_C - samples

50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB58_CEGA dataset EGAD00001001772

本研究共纳入50个核心家系（trio），采用Complete Genomics平台完成全基因组测序，测序深度达80×。每名核心家系中，患儿均患有重度智力障碍（Intellectual Disability, ID），父母表型正常。所有核心家系的基因芯片检测、靶向基因筛查及全外显子组筛查结果均呈阴性。本数据集对应的样本为：BvB58_CEGA数据集，编号EGAD00001001772。