Genomics, mutations and the Internet: the naming and use of parts.

摘要: Mutations are the source of genetic variation and diversity; by their effect, some neutral, others pathogenic. In contemporary genetics, mutations appear at interface between genomics (structural functional) genetics (heredity), where they serve gene discovery mapping (genomics) generate challenges to modify phenotypic effects (medical genetics). Assuming human genome harbours 80,000 transcribed genes each possessing least 100 different (germline) alleles in a typical population, how then record recover data on 8 million alleles? Bioinformatics is essential resource create corresponding accessible digital libraries (genomic locus-specific mutation databases) for this purpose, goal which The HUGO Mutation Database Initiative (Science 279: 10-11, 1998) aspires. Guidelines now exist naming (Hum Mutat 11: 1-3, 1998). principles behind practice illustrated PAHdb (http:/(/)www.mcgill.ca/ pahdb), prototype database (NAR 26: 220-225, 1998), genomic databases (HGMD 285-287, http:/(/)www.uwcm.ac.uk/uwcm/mg/hgmd0.h tml; EBI database, http:/(/)www2.ebi.ac.uk/mutations/; OMIM, http:/(/)www.ncbi.nlm. nih.gov/Omim.html).