Browse Dataset Files


Dataset ID Technology Samples
EGAD00010001606 Illumina SangerDDD_OmniExPlusv1_15019773,MiSeq 2225

Dataset Description

Post-QC (pre-imputation) genotype data for N=2,166, a subset of trios described in EGAD00010001602. These data form N=722 complete trios in which the proband has a neurodevelopmental phenotype (Niemi et al. Nature 2018). Includes HPO phenotype terms for patients. Samples were genotyped on the Illumina HumanOmniExpress BeadChip