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Protocol Details

Reverse Phenotyping Core (RPC)

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts




Sponsoring Institute

National Human Genome Research Institute (NHGRI)

Recruitment Detail

Type: Enrolling by Invitation
Gender: Male & Female
Min Age: 4 Years
Max Age: 120 Years

Referral Letter Required


Population Exclusion(s)



Natural History

Recruitment Keyword(s)



Harboring of unexpected genetic variant

Investigational Drug(s)


Investigational Device(s)




Supporting Site

National Human Genome Research Institute


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.


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.


People already enrolled in a wide variety of protocols. They will be of varying health status, age, and gender. 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.


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.

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-Participants in the RPC Genomic Data Archive must have exome or genome sequencing available that collaborators have permission to share for inclusion in our browser.

-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.

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Wilczewski CM, Obasohan J, Paschall JE, Zhang S, Singh S, Maxwell GL, Similuk M, Wolfsberg TG, Turner C, Biesecker LG, Katz AE. Genotype first: Clinical genomics research through a reverse phenotyping approach. Am J Hum Genet. 2023 Jan 5;110(1):3-12. doi: 10.1016/j.ajhg.2022.12.004. PMID: 36608682.

Garnai SJ, Brinkmeier ML, Emery B, Aleman TS, Pyle LC, Veleva-Rotse B, Sisk RA, Rozsa FW, Ozel AB, Li JZ, Moroi SE, Archer SM, Lin CM, Sheskey S, Wiinikka-Buesser L, Eadie J, Urquhart JE, Black GCM, Othman MI, Boehnke M, Sullivan SA, Skuta GL, Pawar HS, Katz AE, Huryn LA, Hufnagel RB; Genomic Ascertainment Cohort; Camper SA, Richards JE, Prasov L. Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice. PLoS Genet. 2019 May 2;15(5):e1008130. doi: 10.1371/journal.pgen.1008130. PMID: 31048900; PMCID: PMC6527243.

Manthiram K, Preite S, Dedeoglu F, Demir S, Ozen S, Edwards KM, Lapidus S, Katz AE; Genomic Ascertainment Cohort; Feder HM Jr, Lawton M, Licameli GR, Wright PF, Le J, Barron KS, Ombrello AK, Barham B, Romeo T, Jones A, Srinivasalu H, Mudd PA, DeBiasi RL, G(SqrRoot) l A, Marshall GS, Jones OY, Chandrasekharappa SC, Stepanovskiy Y, Ferguson PJ, Schwartzberg PL, Remmers EF, Kastner DL. Common genetic susceptibility loci link PFAPA syndrome, Beh(SqrRoot)(Beta)et's disease, and recurrent aphthous stomatitis. Proc Natl Acad Sci U S A. 2020 Jun 23;117(25):14405-14411. doi: 10.1073/pnas.2002051117. Epub 2020 Jun 9. PMID: 32518111; PMCID: PMC7322016.

Johnston JJ, Brennan ML, Radenbaugh B, Yoo SJ, Hernandez SM; NHGRI Reverse Phenotyping Core; Lewis KL, Katz AE, Manolio TA, Biesecker LG. The ACMG SF v3.0 gene list increases returnable variant detection by 22% when compared with v2.0 in the ClinSeq (Cross)cohort. Genet Med. 2022 Mar;24(3):736-743. doi: 10.1016/j.gim.2021.11.012. Epub 2021 Nov 18. PMID: 34906458.

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Principal Investigator

Referral Contact

For more information:

Clesson E. Turner, M.D.
National Human Genome Research Institute (NHGRI)
(240) 551-3405

Caralynn M. Wilczewski, Ph.D.
National Human Genome Research Institute (NHGRI)
National Institutes of Health
Building 10
Room 8D47
10 Center Drive
Bethesda, Maryland 20892
(301) 402-8503

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: TTY Users Dial 7-1-1

Clinical Trials Number:


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