# Clinical Genome Resource (ClinGen)

> **NIH NIH U41** · STANFORD UNIVERSITY · 2020 · $2,943,376

## Abstract

PROJECT SUMMARY/ABSTRACT (OVERALL)
We propose here to continue our work to create the world’s best community resource for the curation and
dissemination of knowledge on genetic variations relevant to clinical care through the development of the
Clinical Genome (ClinGen) Resource. ClinGen’s goals can be summarized by answering questions related to
the evidence that variation in a gene causes disease (gene validity), specific variants within a disease gene are
associated with disease (variant classification) and whether there is evidence for specific clinical actions if such
variants are found (actionability). As part of the three grants submitting U41 applications, our team will have a
particular focus on implementation of ClinGen processes for gene and variant curation across non-classic
Mendelian disorders including hereditary cancer, somatic variation in cancer, pharmacogenomics and complex
inheritance including non-coding variation in common disease. We are also proposing to further enrich the
analysis of these variants across populations by the introduction of the ever increasing sequence and
genotyping datasets from diverse populations. We will also explore the complex issues around reporting of
ancestry in clinical genomics particularly as alleles in different settings may have different disease impact.
During the first phase of ClinGen funding the Stanford/Baylor informatics and computational biology teams
have built a number of curation interfaces for gene, variant and actionability curation. In this application we
plan to expand the suite of online resources that seamlessly aggregates, normalizes and presents disparate
sources of evidence to curators. Our goal is to enable consistent curation and improve the clinical application
of genomic data in medicine through this informatics infrastructure. We will provide training for the community
in the use of these tools by facilitating online learning courses, support of the clinical domain working groups
and creation of helpdesks. The clinicalgenome.org online public portal will provide the outcome of these
analyses for the community to utilize for clinical interpretation and development of clinical practice guidelines
that are based on genetic results.

## Key facts

- **NIH application ID:** 9989146
- **Project number:** 5U41HG009649-04
- **Recipient organization:** STANFORD UNIVERSITY
- **Principal Investigator:** Thomas J Montine
- **Activity code:** U41 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $2,943,376
- **Award type:** 5
- **Project period:** 2017-09-12 → 2021-09-14

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9989146

## Citation

> US National Institutes of Health, RePORTER application 9989146, Clinical Genome Resource (ClinGen) (5U41HG009649-04). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/9989146. Licensed CC0.

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