International Mammalian Genome Society

The 15th International Mouse Genome Conference (2001)

Table of Contents * Complex Genetics * Developmental Genetics * Gene Annotation * Gene Discovery * Genome Sequencing * Functional Genomics * Mutagenesis * Presentations * Verne Chapman Memorial Lecture

POSTER 132 - ENHANCING ACCESS TO PHENOTYPES IN MGD

Dr Janan Eppig
The Jackson Laboratory
600 Main Street
Bar Harbor
ME 04609
USA

Co-Authors: Burkart DL, Chut T, Goldsmith CW, Lutz CM, Smith C, Szauter P, Richardson JE, Blake JA
Institution:   The Jackson Laboratory

Enhancing access to phenotypes in mgd

With the rapid identification of new genes and sequence variants, the development of novel mutations, the definition of molecular functions, and our growing understanding of the complexity of gene interactions, developing new paradigms for handling the outcome -- phenotypes -- is a pressing need. The Mouse Genome Database (MGD; http://ww.informatics.jax.org) is recasting phenotypic information to enhance the ability of users to search, group, compare, and analyze these data and to more tightly integrate this information with other genomic data.

A key component of this data reorganization and expansion is the development of structured vocabularies that include definitions, synonyms, and attributions. Established vocabularies including the Mouse Anatomical Dictionary, the Gene Ontology, MeSH, and OMIM provide a foundation for building a phenotypic vocabulary. Annotations using these vocabularies will support phenotypes and disease models ranging from single nucleotide changes within a gene to sets of QTL and characteristics of strains.

Integration of data on phenotypic variants, mutants, models and strains will provide a powerful tool for developing hypotheses about underlying mechanisms and pathways. The further integration of these data with sequence, function, and other annotations will be crucial for building new knowledge and navigating the sequence-to-phenotype space.  Supported by NIH grant HG00330 to JTE