# Clinical Genome Resource (ClinGen) Management, Dissemination, and Training Core

> **NIH NIH U41** · STANFORD UNIVERSITY · 2020 · $804,033

## Abstract

PROJECT SUMMARY (ADMIN CORE)
The Clinical Genome Resource (ClinGen) is a collaborative project focused on building the world’s best
resource for clinical grade annotation of human genomic variation. During the first phase of this project, the
three funded grants worked closely with each other and NCBI/ClinVar to accomplish our shared goals. This
included developing an administrative structure and establishment of a steering committee, external advisory
committee, and more than a dozen working groups covering topics that include informatics and technology
infrastructure, patient engagement, professional education, and, of course, dedicated clinical domain working
groups that included cardiovascular disease, inborn errors of metabolism, pharmacogenomics, hereditary
cancer, neonatal screening programs, and the ACMG set of genes where incidental findings are considered
clinically actionable . During the first phase of the project, these working groups prioritized genes within their
domain and we developed associated resources designed for gene::disease and variant curation as well as
modeling and data warehousing. The resource was designed with the goal of scaling up of curation as we seek
to support whole genome clinical-grade annotation of know pathogenic (and non-pathogenic) variants across
the spectrum of characterized and (novel) genetic disorders. To enable this scale up, we are proposing
additional working groups, community resources, and administrative practices that will ensure our success.
The last of these is described in detail in the first Aim of this section which covers the Management and
Administration of ClinGen and the organization of our individual Stanford/Baylor component. Briefly, our team
has worked very well together and we will retain our Multi-PI structure with Dr. Plon heading our interactions
with the clinical domain working groups and Dr. Bustamante overseeing the development of informatics
resources. We have also contributed to the overall projected by providing the backbone infrastructure to enable
gene::disease and variant curation, data warehousing and integration, and development of novel
computational predictors for missense and regulatory variation. The management of the Gene and Variant
Curation Interfaces (GCI/VCI) as well as Allele Registry, Pathogenicity Calculator, and Actionability Curation
are discussed in Aim 2. These are established programs run by Dr. Cherry and Dr. Milosavljevic with dedicated
professional staff and user engagement to request, design, and test new features. Our informatics team is
also embedded across clinical domain working groups (CDWGs) as well as data modeling, variant
interpretation, and software alignment committees. This ensures that the resource we build is responsive to the
overall project as well as our individual user needs. Our final Aim, describes the education and outreach efforts
we propose. This includes video tutorials, workshops, webinars, discussion forums, documentati...

## Key facts

- **NIH application ID:** 9989148
- **Project number:** 5U41HG009649-04
- **Recipient organization:** STANFORD UNIVERSITY
- **Principal Investigator:** Carlos Daniel Bustamante
- **Activity code:** U41 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $804,033
- **Award type:** 5
- **Project period:** 2017-09-12 → 2021-09-14

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9989148

## Citation

> US National Institutes of Health, RePORTER application 9989148, Clinical Genome Resource (ClinGen) Management, Dissemination, and Training Core (5U41HG009649-04). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/9989148. Licensed CC0.

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