# Bioinformatics Section

> **NIH NIH U54** · JACKSON LABORATORY · 2020 · $447,909

## Abstract

PROJECT SUMMARY BIOINFORMATICS CORE
The broad goal of the Bioinformatics Core is to support development of novel mouse models in The Jackson
Laboratory (JAX) Center for Precision Genetics (JCPG) with portal that supports the activities of the Center
with simplified access to tools, resources and expertise, and deploys data driven strategies that integrate
genetic, genomic and phenotypic information across humans and mice. The development of disease models
has been hampered by simplifying assumptions regarding disease variant identification, phenotype annotation
and model development. Unfortunately, the early notion held by human and mouse geneticists that a defect in
a single gene would equate to a single disease has proven wrong and it is now clear that human disease is
much more complex. Progress depends on making animal models that reflect this complexity.
The JCPG Bioinformatics Core will develop, implement, disseminate, apply and validate data-driven
approaches to the refinement of mouse models through the computational integration of genetic and
phenotypic heterogeneity. This work harnesses and integrates a suite of tools and data resources available at
The Jackson Laboratory and beyond, including GeneWeaver, Mouse Phenome Database, Human Phenotype
Ontology and Monarch Initiative, and multiple resources from the Mouse Genome Database and Alliance for
Genome Resources. The practical goal of the Core is to establish the workflows, implement software
enhancements and a publicly accessible portal that provide a seamless user experience for the identification,
design and evaluation of mouse models appropriate for a given disease. To achieve this our work will pursue
the following three Aims, each designed to develop specific tools or services:
Aim 1. We will develop a suite of services for the analytic integration of human and mouse genetic, genomic
and phenomic data to identify and prioritize features for enhanced precision disease models.
Aim 2. We will provide an integrated study intake and management system with data quality control, analytics
and dissemination tools that interoperates with our knowledge graph and catalogue.
Aim 3. We will develop an external end-user facing portal for access to guided workflows, data and model and
model organisms, project tracking and access to integrated resources.

## Key facts

- **NIH application ID:** 10138458
- **Project number:** 1U54OD030187-01
- **Recipient organization:** JACKSON LABORATORY
- **Principal Investigator:** Elissa J Chesler
- **Activity code:** U54 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $447,909
- **Award type:** 1
- **Project period:** 2020-09-01 → 2025-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10138458

## Citation

> US National Institutes of Health, RePORTER application 10138458, Bioinformatics Section (1U54OD030187-01). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10138458. Licensed CC0.

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