DOE Human Genome Program Contractor-Grantee Workshop VIII
February 27-March 2, 2000  Santa Fe, NM

75. Integrating Sequence and Biology: Developing an Informatics Infrastructure for Mouse/Human Comparative Genomics

C.J. Bult, J.T. Eppig, J.A. Blake, J.E. Richardson, and J.A. Kadin

The Jackson Laboratory, Bar Harbor, ME 04609

cjb@informatics.jax.org

Sequence similarity provides a powerful mechanism for predicting orthogonal relationships between mouse and human genes. However, it is the extension of sequence level correspondence to the detailed knowledge about the genes and the relationships of genes to phenotype that makes the comparative genomics approach such a powerful one for understanding biological processes. As the capacity to collect large data sets of complex biological information grows, integration of data from diverse sources about the same genomic feature from diverse sources will be key to developing new insights into human biology using mouse as a model organism.

Although a number of highly automated sequence annotation pipelines have been developed to support large-scale genomic sequence projects, relatively little attention has been paid to developing the infrastructure needed to support the integration of genomic sequence data with related biological information and data. The Mouse Genome Sequence (MGS) database is being developed to provide access annotated mouse genome sequence that has been integrated with existing biological knowledge about the laboratory mouse (e.g., phenotype, expression data, gene homology that are represented in other databases (see the Mouse Genome Database and Gene Expression Database at http://www.informatics.jax.org). MGS represents a critical component of the informatics infrastructure that is needed to support comparative, computational, and functional genomics.