Reverse Phenotyping Core

June 10, 2026 updated by: National Human Genome Research Institute (NHGRI)

Reverse Phenotyping Core (RPC)

Background:

Genes tell a person's body how to grow and work. All people have variations in their genes. Some of these cause differences that show up in a person's traits or their health, others do not. Researchers want to gather more data on people based on their genes. They want to use this data to learn more about diseases and possible treatments.

Objectives:

To develop a cohort of participants who can be contacted again for phenotyping and collect their genetic data. To share those data with other researchers and make them searchable.

Eligibility:

People already enrolled in a wide variety of protocols. They will be of varying health status, age, and sex. They will have had or plan to have exome or genome sequencing under their protocol. They can be re-contacted by the research team for possible other studies.

Design:

Participants will give basic details like contact and demographic information.

Participants may answer questions about their personal health history, their family medical history, or their thoughts or reactions to data.

Participants may have basic health tests. Their height, weight, or blood pressure may be checked.

Participants may have tests of heart function. They may have an ultrasound or other non-invasive test.

Participants may provide blood, urine, or other samples.

Participants may have scans or other tests.

Participants will get the results of all clinical tests in a letter.

If any tests are abnormal, someone from the study will call the participant to explain what the results mean and what to do about them.

Participants will get genetic testing results only if researchers think they could affect the health of the participant or their relatives.

Study Overview

Status

Enrolling by invitation

Conditions

Detailed Description

Study Design:

RPC will be a data resource of genetic variants with the capability of performing phenotyping for selected study participants who have undergone genome or exome sequencing and were consented for data sharing and re-contact. De-identified genome or exome data will be collected as the RPC Genomic Data Archive and available in a web browser quantifying alleles in aggregate. Investigators may request additional data for research on the basis of variants of interest identified in the browser. Individuals with genetic variants of interest may be offered phenotyping under RPC. Phenotyping performed under RPC will include obtaining medical information, gathering biologic samples, and selected diagnostic studies that can be performed in the NIHCC (NIH Clinical Center). RPC will enable investigation of phenotypic consequences of genetic variation in humans by using a genomic ascertainment strategy to minimize the bias of phenotypic ascertainment.

Primary Objective:

  1. To pilot the development of a cohort of individuals with genome or exome sequencing data who can be re-contacted for phenotyping and make those data available to and searchable by collaborators.
  2. To facilitate the completion of genotype-driven research projects by RPC or other investigators.

Secondary Objectives:

Secondary objectives will relate to the studies that will address phenotypic consequences of specific genetic variants identified in the RPC cohort. Such studies will include investigation of the phenotypic spectrum associated with genetic variation.

Endpoints:

This is a hypothesis-generating research study and therefore has no concrete endpoints.

Study Type

Observational

Enrollment (Estimated)

1000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Maryland
      • Bethesda, Maryland, United States, 20892
        • National Institutes of Health Clinical Center

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

4 years and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Individuals who have undergone genome sequencing under separate protocol

Description

  • INCLUSION CRITERIA:
  • Participants in the RPC Genomic Data Archive must have exome or genome sequencing available that collaborators have permission to share for inclusion in our resource.
  • Participants in the RPC Genomic Data Archive must be re-contactable by the primary study team (e.g., the collaborator who contributes their data must be able to contact the participants).
  • All participants must be >= 4 years old.
  • Health Perceptions Survey Criterion: Only adult participants who are able to provide consent for themselves will be eligible for this portion of the study.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Other

Cohorts and Interventions

Group / Cohort
Reverse Phenotyping Core
Individuals undergoing phenotyping by the Reverse Phenotyping Core (RPC)

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Hypotheses from RPC to be tested
Time Frame: yearly
RPC will generate data regarding phenotypic consequences of genetic variants
yearly

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

National Human Genome Research Institute (NHGRI)

Investigators

  • Principal Investigator: Clesson E Turner, M.D., National Human Genome Research Institute (NHGRI)

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

January 23, 2020

Primary Completion (Estimated)

June 1, 2028

Study Completion (Estimated)

December 29, 2028

Study Registration Dates

First Submitted

August 14, 2018

First Submitted That Met QC Criteria

August 14, 2018

First Posted (Actual)

August 15, 2018

Study Record Updates

Last Update Posted (Actual)

June 11, 2026

Last Update Submitted That Met QC Criteria

June 10, 2026

Last Verified

June 9, 2026

More Information

Terms related to this study

Keywords

Other Study ID Numbers

  • 180129
  • 18-HG-0129

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

YES

IPD Plan Description

We are actively depositing data into the database of genotypes and phenotypes (dbGaP), which is designed with tiered access to clinical data. That is, there is open, public access to summary clinical data of study participants and qualified investigators may apply for access to individual, coded clinical results. Such access is limited to authorized medical researchers and redistribution and security policies are strict. Broad future use of the data deposited into dbGaP (as opposed to restricted use for specific disorders) will be permitted. Sequence traces for individual genes will be available publicly (deposited in GenBank); however, these sequence traces will not be linked to a participant's identifiable information, nor to the sequence traces of other genes sequenced in that participant's sample. Coded genomic data are available to data contributors and NIH intramural investigators through the Reverse Phenotyping Core browser (18-HG-0129; https://rpc.nhgri.nih.gov/).

IPD Sharing Time Frame

Data in dbGap is stored per NIH policy. Data in the Reverse Phenotyping Core/TGAC browser will be stored for the remainder of the protocol (18-HG-0129) and the time the study is closed, a proposal to the IRB will be made to keep the data or destroy it.

IPD Sharing Access Criteria

dbGap is a controlled-access database with view-only access to summary-level information and individual-level genotype and sequence data associated with phenotypic features. The Reverse Phenotyping Core/TGAC browser allows researchers to identify particular genotypes or ranges of genotypes, while preserving the privacy of study participants by only displaying aggregate data for one or a limited number of loci in a search. The browser is located on NIH servers and searchable only by investigators in the NIH s intramural research program or external collaborators who have contributed sequence data.

IPD Sharing Supporting Information Type

  • STUDY_PROTOCOL

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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