50_ID_WGS_CG_DESC_MW20_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: MW20_MEGA dataset EGAD00001001798

本数据集包含50个三人核心家系样本，均采用Complete Genomics平台完成全基因组测序，测序深度达80×。每个三人核心家系中，患儿均患有重度智力障碍（Intellectual Disability），父母表型均正常；且所有样本的基因芯片检测、靶向基因筛查及全外显子组测序筛查结果均为阴性。本数据集包含样本：MW20_MEGA数据集，编号为EGAD00001001798。