50_ID_WGS_CG_DESC_BvB30_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: BvB30_MEGA dataset EGAD00001001726

本研究共纳入50个核心家系三人组，采用Complete Genomics平台完成全基因组测序，测序深度达80×。所有家系中，子代先证者均患有重度智力障碍（Intellectual Disability, ID），父母表型正常。此前针对所有家系开展的基因芯片检测、靶向基因筛查及全外显子组筛查结果均为阴性。本数据集包含样本：BvB30_MEGA数据集，编号EGAD00001001726。