50_ID_WGS_CG_DESC_BvB60_F - 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: BvB60_FEGA dataset EGAD00001001776

本数据集包含50个三人核心家系，采用Complete Genomics平台完成全基因组测序，测序深度达80倍。每个核心家系的子代均罹患重度智力障碍（Intellectual Disability, ID），父母表型均正常。所有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为阴性。该数据集对应样本集为BvB60_FEGA，编号为EGAD00001001776。