Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort - Callaghan, Daniel Benjamin; Rogic, Sanja; Tan, Powell Patrick Cheng; Calli, Kristina; Qiao, Ying; Baldwin, Robert; Jacobson, Matthew; Belmadani, Manuel; Holmes, Nathan; Yu, Chang; Li, Yanchen; Li, Yingrui; et al. (Clinical genetics, 2019)
Keywords: Autism; autism spectrum disorder (ASD); de novo variant; deep phenotyping; Genetic disorders; Genomes; Heredity; likely gene damaging (LGD) variant; Pathogenicity; phenotype clustering; Phenotypes; single nucleotide variant (SNV); variant prioritization; Whole genome sequencing; de novo variant; whole genome sequencing; phenotype clustering; likely gene damaging (LGD) variant; single nucleotide variant (SNV); autism spectrum disorder (ASD); variant prioritization; deep phenotyping