50_ID_WGS_CG_DESC_BvB4_M - 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: BvB4_MEGA dataset EGAD00001001756

本数据集包含50个核心家系（trio），采用Complete Genomics平台完成了80倍深度的全基因组测序。每个核心家系中的患儿均罹患重度智力障碍，父母表型正常。所有核心家系的基因芯片检测、靶向基因检测及全外显子组筛查结果均为阴性。该数据集对应的样本为BvB4_MEGA数据集，编号为EGAD00001001756。