? OVERALL COMPONENT As the cost of genome-scale sequencing continues to decrease and new technologies for genome editing become widely adopted, the laboratory mouse is more important than ever as a model system for understanding the biological significance of human genetic variation and for advancing the emergence of genomic medicine. The Mouse Genome Database (MGD) has a unique and strategic role as a community resource for facilitating the use of the laboratory mouse for understanding human biology and disease. MGD serves three major user communities: (i) biomedical researchers using mouse experimentation to investigate genetic and molecular principles of biology and disease processes, (ii) clinical and translational scientists using mouse as a model to study human disease, and (iii) bioinformaticians / computational biologists using the rich integrated data in MGD to develop algorithms and bioinformatics pipelines for data analysis and interpretation. In the grant renewal period, MGD staff will continue to integrate new genetic, genomic, variant, functional, phenotypic, and human disease model data essential to researchers using the laboratory mouse in biomedical research. We will make these data freely available through a variety of web-based and programmatic user interfaces. Our Resource Project aims include (i) maintaining the canonical catalog of mouse genome features, (ii) serving as the authoritative data for mouse functional annotations, and (iii) maintaining a comprehensive catalog of mouse mutant alleles and their phenotype and disease model associations. We also will expand and refine our Human-Mouse Disease Connection portal to serve the clinical, translational, and comparative research communities. To support our Resource Project aims, we will maintain cost-effective software, database, and hardware using industry best practices. We will maintain MGD's secure infrastructure through regular maintenance, upgrades, and planned evolution. We will develop new software components to accomplish biologically driven initiatives and we will implement enhancements to the system as new data types and data sources relevant to our mission emerge. To ensure the greatest impact of MGD in the broader scientific community, we provide robust user support and outreach through online user documentation, tutorials, training workshops, and one-on-one assistance using a variety of communication modalities and major social media tools. We actively solicit community input, data submissions, and collaborations.

Public Health Relevance

Virtually all advances in human medicine rely on the use of animal models to generate, test and evaluate hypotheses relevant to human biology. Chief among these animal models is the laboratory mouse. In this era of genome-scale, data-driven biomedical research, the Mouse Genome Database (MGD) plays a pivotal role in standardizing, integrating, and disseminating information about the laboratory mouse as a model system for understanding human biology and disease processes. MGD's focus on three distinct user groups: basic scientists, clinical researchers, and bioinformaticians ensures the broadest possible impact of the resource in contributing to the development of new hypotheses and new discoveries that are relevant to the advancement of human health.

Agency
National Institute of Health (NIH)
Institute
National Human Genome Research Institute (NHGRI)
Type
Biotechnology Resource Cooperative Agreements (U41)
Project #
5U41HG000330-29
Application #
9264576
Study Section
Special Emphasis Panel (ZHG1-HGR-M (O1))
Program Officer
Di Francesco, Valentina
Project Start
1997-07-01
Project End
2021-03-31
Budget Start
2017-04-01
Budget End
2018-03-31
Support Year
29
Fiscal Year
2017
Total Cost
$3,512,581
Indirect Cost
$1,494,592
Name
Jackson Laboratory
Department
Type
Research Institutes
DUNS #
042140483
City
Bar Harbor
State
ME
Country
United States
Zip Code
04609
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