Integration of global resources for human genetic variation and disease.

摘要: There is an increasing accumulation of data on disease-related mutations and associated phenotypes in a wide variety databases worldwide. Exploiting these the context whole genome sequencing inhibited because phenotype information often difficult to search meaningfully or relate between sets, automated computational integration not possible. Key this development ontology-based methods for describing diseases terms their component phenotypes. This would allow analysis variation disease manifestation, relationships model organisms, linking gene mutations, pathways, Building systematic link manifested organisms will be particular importance with advent new, large-scale phenotyping projects such as International Mouse Phenotyping Consortium. In addition improved semantic description, funding organizational innovations are required support integration. particular, series national international hubs hold genotype needed which could feed central database. addition, better coordination clinical bioinformatics experts and, crucially, transnational infrastructure required. Hum Mutat 33:813–816, 2012. © 2012 Wiley Periodicals, Inc.