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Reverse Phenotyping Core

Enrolling By InvitationN/A

Sponsor: National Human Genome Research Institute (NHGRI)

Conditions: Harboring of Unexpected Genetic Variant

Countries: United States

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.

Eligibility overview

Sex: ALL

Age: 4 Years to 120 Years

Healthy volunteers: No

Study type: OBSERVATIONAL

Eligibility criteria

* 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.

Locations (1)

Bethesda, Maryland, United States