# The Clinical Genome Resource - Expert Curation and EHR Integration

> **NIH NIH U41** · UNIV OF NORTH CAROLINA CHAPEL HILL · 2020 · $3,214,945

## Abstract

Project Summary/Abstract – Overall
Fundamental advances in genetic sequencing technologies were stimulated by the human genome
project and are now in turn transforming genome science and medicine. Yet the promise of genomic
medicine remains limited by the lack of definitive sources of information about the genetic
contributions to disease. Although many groups are attempting to address this gap individually, such
efforts will ultimately fall short if they remain disconnected. The ClinGen Resource represents a
collaborative effort of the genetics community to establish an evidence-based resource for the
assessment of the clinical relevance of genes and variants. This knowledge base is critical for
confident, efficient analysis and interpretation of genome-scale sequence data. The objective is to
provide a publicly available consensus summary of the evidence from the medical literature, basic
science researchers, and clinical laboratories regarding the genes and variants that are implicated in
human health and disease. Dedicated portals will be provided for researchers, clinical laboratories,
physicians, patients, and electronic health records to ensure that the resource is widely accessible.
The consortium of investigators will accomplish this objective by pursuing five specific aims: 1) Share
genomic and phenotypic data between clinicians, researchers, and patients through centralized and
federated databases for clinical and research use; 2) Develop and implement standards to support
clinical annotation and interpretation of genes and variants; 3) Develop data standards, software
infrastructure and computational approaches to enable curation at scale and facilitate integration into
healthcare delivery; 4) Enhance and accelerate expert review of the clinical relevance of genes and
variants; and 5) Disseminate and integrate ClinGen knowledge and resources to the broader
community. The proposal innovates by utilizing novel approaches for the assessment of genes and
variants that are robust and reproducible, and by establishing an ecosystem of expert curation groups
that apply standardized procedures, with mechanisms for updating and reanalysis. The proposal is
forward-thinking in that attention will be paid to ensuring the interoperability of the resource with
diverse end-users, including electronic health records. The proposed resource project is significant
because it will provide freely available expert curation of the human genome across a substantial
number of clinical domains, with a transparent and evidence-based approach.

## Key facts

- **NIH application ID:** 9987665
- **Project number:** 5U41HG009650-04
- **Recipient organization:** UNIV OF NORTH CAROLINA CHAPEL HILL
- **Principal Investigator:** JONATHAN S BERG
- **Activity code:** U41 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $3,214,945
- **Award type:** 5
- **Project period:** 2017-09-12 → 2021-07-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9987665

## Citation

> US National Institutes of Health, RePORTER application 9987665, The Clinical Genome Resource - Expert Curation and EHR Integration (5U41HG009650-04). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/9987665. Licensed CC0.

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