title: A new era in the discovery of de novo mutations underlying human genetic disease.
authors.forename: Chee-Seng
authors.initials: CS
authors.lastname: Ku
authors.forename: Vasilis
authors.initials: V
authors.lastname: Vasiliou
authors.forename: David N
authors.initials: DN
authors.lastname: Cooper
mesh_terms: D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D015894:Genome, Human; D018095:Germ-Line Mutation; D006579:Heterozygote; D006801:Humans; D017354:Point Mutation; D020641:Polymorphism, Single Nucleotide