title: Defining the pathogenicity of DNA sequence variation.
authors.forename: Carolyn Y
authors.initials: CY
authors.lastname: Ho
authors.forename: Calum A
authors.initials: CA
authors.lastname: MacRae
mesh_terms: D001483:Base Sequence; D004194:Disease / Q000235:genetics*; D014644:Genetic Variation; D005826:Genetics, Medical; D005838:Genotype; D006801:Humans; D010641:Phenotype; D013812:Therapeutics