The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine - Stenson, Peter D.; Mort, Matthew; Ball, Edward V.; Shaw, Katy; Phillips, Andrew D.; Cooper, David N. (Human genetics, 2014)
Keywords: Bioinformatics; Biological products; Biomedical and Life Sciences; Biomedicine; Cell Nucleus - genetics; Computational Biology; Databases, Genetic; Diagnostic tests; DNA Copy Number Variations; Gene Function; Gene mutations; Genes; Genetic Predisposition to Disease; Genetic Testing; Genetics; Genome, Human; Genomes; Genomics; Germ-Line Mutation; Human Genetics; Humans; Metabolic Diseases; Molecular Medicine; Mutation; Polymorphism, Genetic; Precision Medicine; Review Paper; Mutation Data; Unify Medical Language System; Human Gene Mutation Database; Variant Call Format; Human Phenotype Ontology