PgmNr M5002: Genes, Orthologs, and Human Diseases: How Model Organism Databases and the Gene Ontology Empower Knowledge Discovery.

Authors:
J. A. Blake


Institutes
The Jackson Laboratory, Bar Harbor, ME.


Abstract:

The Model Organism Databases (MODs) and the Gene Ontology (GO) systems are core data resources for the study of human biology and disease.  The MODs having been continuously funded by since the initiation of the Human Genome Project in recognition of the power inherent in the use of these key model organisms for knowledge discovery.  They provide gold standard integration of multiple genetics and genomics data, and have been instrumental in the rapid advances in our understanding of the how biological systems work and how genetic variation impacts human biology and contributes to human diseases.  The 2016 TAGC meeting brings together communities from Ciliates, Yeast, Mouse, Zebrafish, Drosophila and C. elegans  to share genetics discovery stories and advance our common objectives.

I will discuss how the MODs and GO communities work together in their common objectives to capture and integrate genetics and genomics data at surprising depth and complexity.  I will demonstrate how these communities provide these data to a variety of research communities.  I will use the Mouse Genome Database and the Gene Ontology Consortium as the primary examples of how the shared and complementary efforts of experimental scientists, bioinformatics analysts, and bioinformatics specialists together advance science in our current research environment that features very large heterogeneous data sets and rapidly advancing technologies that build on existing understanding of biology and disease.

This work is funded by NIH grants HG 000330 to the Mouse Genome Database (PIs, JA Blake, CJ Bult and JT Eppig) and HG 002273 to the Gene Ontology Consortium (PIs JA Blake, JM Cherry, SE Lewis, PW Sternberg and PD Thomas).
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