# Broad-Geisinger Clinical Genome Resource

> **NIH NIH U24** · BROAD INSTITUTE, INC. · 2022 · $4,286,570

## Abstract

PROJECT SUMMARY
Genomic variation underlies almost all human disease. Technological advances have made variant detection
across the human genome commonplace in medical care, sparking an expansion of basic and clinical research.
To accurately assess the impact of any given genomic variant on human health, clinicians and researchers must
have quick, easy access to high-quality knowledge sources. Since 2013, the Clinical Genome Resource
(ClinGen) has been dedicated to creating such knowledge bases, defining the clinical relevance of genes and
variants for use in medicine and research. This proposal builds upon ClinGen’s successful foundation, using
existing tools and approaches while developing new ones, to expand and scale our efforts. We will work closely
with our colleagues submitting linked U24 grant proposals (Baylor/Stanford; University of North Carolina/Kaiser),
as our work is highly integrated and synergistic for achieving our shared goals, which are embodied by our
specific aims: 1) Develop and implement standards to support clinical annotation and interpretation of genes and
variants; 2) Share genomic and phenotypic data between clinicians, researchers, and patients through enhanced
knowledge bases for clinical and research use; 3) Enhance and accelerate expert review of the clinical relevance
of genes and variants; and 4) Disseminate and integrate ClinGen knowledge and resources to the broader
community. ClinGen’s approach to providing curated clinical genomic resources to aid the interpretation of
individual genomes involves curating genes to understand which have been validly implicated in disease (and
through what mutational mechanisms), and curating variants (and the evidence supporting claims of
pathogenicity) to identify which are causal for existing disease or predictive of risk for future disease. To address
these needs, we have organized gene and variant curation expert panels by clinical domains to curate claims of
gene-disease association and variant pathogenicity. In addition, we curate the dosage sensitivity for each gene
to aid in the interpretation of structural variants, as well as the actionability of gene-disease pairs to guide the
use of this information for determining disease risk. To support variant interpretation, we develop standards to
enable the global community to classify variants with the same rigorous standards as ClinGen. We continue to
improve global data sharing of genomic knowledge through our successful partnership with ClinVar, the National
Center for Biotechnology Information’s repository for genomic variants and their relationships to human health,
as well as through direct data sharing from patients via Genome Connect, ClinGen’s patient registry. We will
continue to solicit and support ClinVar submissions, with particular focus on global and diverse data sources,
allowing transparency, comparison of results, and crowdsourcing variant classification. Finally, we disseminate
ClinGen’s work through mult...

## Key facts

- **NIH application ID:** 10492728
- **Project number:** 5U24HG006834-09
- **Recipient organization:** BROAD INSTITUTE, INC.
- **Principal Investigator:** CHRISTA LESE MARTIN
- **Activity code:** U24 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $4,286,570
- **Award type:** 5
- **Project period:** 2013-09-23 → 2026-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10492728

## Citation

> US National Institutes of Health, RePORTER application 10492728, Broad-Geisinger Clinical Genome Resource (5U24HG006834-09). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10492728. Licensed CC0.

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