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Showing 25–48 of 24 matching trials from the live ClinicalTrials.gov search.
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Filters: Intervention: Exome sequencing Clear all
Terminated No phase listed Observational Accepts healthy volunteers

Genetic Causes of Growth Disorders

NCT02311322
View directory record Official record
Conditions
Short Stature, Growth Disorder, Syndromic Growth Disorder, Tall Stature
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
Not listed
Enrollment
334 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2023
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 15, 2023 · Synced Sep 7, 2026, 8:23 AM EDT
Completed No phase listed Observational

Genomic Basis of Neurodevelopmental and Brain Outcomes in Congenital Heart Disease (CHD Brain and Genes)

NCT03070197
View directory record Official record
Conditions
Heart Disease Congenital
Interventions
Exposure of interest: Brain MRI, Exposure of interest: neurodevelopmental assessments
Other
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
8 Years and older
Enrollment
196 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2020
U.S. locations
8
States / cities
Los Angeles, California • San Francisco, California • New Haven, Connecticut + 5 more
Source: ClinicalTrials.gov public record
Updated Aug 12, 2020 · Synced Sep 7, 2026, 8:23 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

A Safety Study Assessing the Effects of Receiving Genome Sequencing Results

NCT01692223
View directory record Official record
Conditions
History of Cancer
Interventions
qualitative interviews
Behavioral
Lead sponsor
Memorial Sloan Kettering Cancer Center
Other
Eligibility
18 Years and older
Enrollment
8 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2012 – 2018
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Aug 1, 2018 · Synced Sep 7, 2026, 8:23 AM EDT
Completed Not applicable Interventional

NCGENES: North Carolina Clinical Genomic Evaluation by NextGen Exome Sequencing

NCT01969370
View directory record Official record
Conditions
Cancer, Cardiovascular Disease, Neurologic Dysfunction, Congenital Abnormalities, Hearing Loss
Interventions
Experimental
Behavioral
Lead sponsor
University of North Carolina, Chapel Hill
Other
Eligibility
Not listed
Enrollment
645 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2017
U.S. locations
1
States / cities
Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated May 2, 2017 · Synced Sep 7, 2026, 8:23 AM EDT
Completed No phase listed Observational

Genetics of COVID-19 Susceptibility and Manifestations

NCT04371432
View directory record Official record
Conditions
COVID-19, Coronavirus 2019
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
1 Month to 110 Years
Enrollment
721 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2024
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Aug 20, 2026 · Synced Sep 7, 2026, 8:23 AM EDT
Recruiting No phase listed Observational

Whole Exome and Whole Genome Sequencing for Genotyping of Inherited and Congenital Eye Conditions

NCT02077894
View directory record Official record
Conditions
Genetic Eye Disease
Interventions
Not listed
Lead sponsor
National Eye Institute (NEI)
NIH
Eligibility
1 Day to 120 Years
Enrollment
2,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2029
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Aug 30, 2026 · Synced Sep 7, 2026, 8:23 AM EDT
Active, not recruiting No phase listed Observational

Molecular Profiling in Tissue Samples From Patients With Cancer Who Are Exceptional Responders to Treatment

NCT02243592
View directory record Official record
Conditions
Malignant Neoplasm
Interventions
Laboratory Biomarker Analysis
Other
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
18 Years and older
Enrollment
170 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2027
U.S. locations
73
States / cities
Duarte, California • Fresno, California • Oakland, California + 58 more
Source: ClinicalTrials.gov public record
Updated Apr 16, 2026 · Synced Sep 7, 2026, 8:23 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Genetics of Appendix Cancer Study

NCT05734430
View directory record Official record
Conditions
Appendix Cancer, Appendiceal Cancer, Appendiceal Neoplasms, Appendiceal Mucinous Neoplasm, Appendiceal Adenocarcinoma, Appendiceal Carcinoid Tumor, Appendiceal Neoplasm Malignant Secondary, Appendix Adenocarcinoma, Appendix Mucinous Neoplasm, Appendix Tumor, Appendix Cancer Metastatic, Appendix NET, Low-Grade Appendix Mucinous Neoplasm, High Grade Appendix Mucinous Neoplasm, High Grade Appendix Mucinous Adenocarcinoma
Interventions
Genetic profiling, Retrospective tissue procurement
Genetic · Other
Lead sponsor
Andreana Holowatyj, PhD, MSCI
Other
Eligibility
18 Years and older
Enrollment
700 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2034
U.S. locations
1
States / cities
Nashville, Tennessee
Source: ClinicalTrials.gov public record
Updated Apr 17, 2025 · Synced Sep 7, 2026, 8:23 AM EDT
Completed No phase listed Observational

Gene Expression in Patients With Metastatic Prostate Cancer Receiving CYP-17 Inhibition Therapy

NCT01953640
View directory record Official record
Conditions
Hormone-Resistant Prostate Cancer, Metastatic Prostate Carcinoma, Prostate Adenocarcinoma, Recurrent Prostate Carcinoma
Interventions
Laboratory Biomarker Analysis, Quality-of-Life Assessment
Other
Lead sponsor
Mayo Clinic
Other
Eligibility
18 Years and older · Male only
Enrollment
92 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2023
U.S. locations
3
States / cities
Scottsdale, Arizona • Jacksonville, Florida • Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated Aug 13, 2026 · Synced Sep 7, 2026, 8:23 AM EDT
Completed No phase listed Observational

Biomarkers in Tissue Samples From Young Patients With Liver Cancer

NCT01336881
View directory record Official record
Conditions
Childhood Hepatoblastoma, Stage I Childhood Liver Cancer, Stage II Childhood Liver Cancer, Stage III Childhood Liver Cancer, Stage IV Childhood Liver Cancer
Interventions
RNA analysis, gene expression analysis, microarray analysis, nucleic acid sequencing, diagnostic laboratory biomarker analysis
Genetic · Other
Lead sponsor
Children's Oncology Group
Network
Eligibility
Up to 16 Years
Enrollment
99 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2011
U.S. locations
1
States / cities
Monrovia, California
Source: ClinicalTrials.gov public record
Updated May 17, 2016 · Synced Sep 7, 2026, 8:23 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Helix Research Network

NCT06057181
View directory record Official record
Conditions
Genetic Predisposition to Disease, Genetics Disease
Interventions
Exome sequencing
Genetic
Lead sponsor
Helix, Inc
Industry
Eligibility
18 Years and older
Enrollment
2,000,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2036
U.S. locations
14
States / cities
Fort Wayne, Indiana • Bloomington, Minnesota • Omaha, Nebraska + 11 more
Source: ClinicalTrials.gov public record
Updated Mar 22, 2026 · Synced Sep 7, 2026, 8:23 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science

NCT00950118
View directory record Official record
Conditions
Congenital Diaphragmatic Hernia
Interventions
Not listed
Lead sponsor
Columbia University
Other
Eligibility
Not listed
Enrollment
3,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2005 – 2026
U.S. locations
13
States / cities
Chicago, Illinois • Ann Arbor, Michigan • St Louis, Missouri + 9 more
Source: ClinicalTrials.gov public record
Updated Dec 11, 2025 · Synced Sep 7, 2026, 8:23 AM EDT
Available No phase listed Expanded access

Expanded Access To Neoantigen Synthetic Long Peptide Vaccines in Patients With Local Or Metastatic Solid Tumors

NCT06963697
View directory record Official record
Conditions
Cancer
Interventions
Personalized Synthetic Long Peptide Vaccine
Biological
Lead sponsor
Jaime Leandro Foundation for Therapeutic Cancer Vaccines
Other
Eligibility
12 Years and older
U.S. locations
1
States / cities
Austin, Texas
Source: ClinicalTrials.gov public record
Updated Jan 14, 2026 · Synced Sep 7, 2026, 8:23 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

Cancer Health Assessments Reaching Many

NCT03426878
View directory record Official record
Conditions
Hereditary Cancer Syndrome
Interventions
Modified genetic counseling, Traditional genetic counseling
Other
Lead sponsor
Kaiser Permanente
Other
Eligibility
18 Years to 49 Years
Enrollment
967 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2022
U.S. locations
2
States / cities
Denver, Colorado • Portland, Oregon
Source: ClinicalTrials.gov public record
Updated Sep 10, 2025 · Synced Sep 7, 2026, 8:23 AM EDT
Completed No phase listed Observational

Whole Exome Sequencing and Whole Genome Sequencing for Nonimmune Fetal/Neonatal Hydrops

NCT03911531
View directory record Official record
Conditions
Nonimmune Fetal Hydrops, Nonimmune Hydrops in Neonate, Genetic Disorders
Interventions
Whole Exome Sequencing, Whole Genome Sequencing
Diagnostic Test
Lead sponsor
Thomas Jefferson University
Other
Eligibility
16 Years to 55 Years
Enrollment
55 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2025
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jul 13, 2026 · Synced Sep 7, 2026, 8:23 AM EDT
Withdrawn No phase listed Observational

Circulating Tumor DNA to Monitor the Efficacy of Total Neoadjuvant Therapy for Rectal Cancer

NCT05356585
View directory record Official record
Conditions
Colorectal Cancer, Rectal Cancer
Interventions
SignateraTM assay
Genetic
Lead sponsor
Case Comprehensive Cancer Center
Other
Eligibility
18 Years and older
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2024
U.S. locations
1
States / cities
Cleveland, Ohio
Source: ClinicalTrials.gov public record
Updated Apr 11, 2024 · Synced Sep 7, 2026, 8:23 AM EDT
Completed Phase 2Phase 3 Interventional

Oral Hypoglycemic Therapy for Monogenic Variant Carriers of the Joslin Medalist Study

NCT04409795
View directory record Official record
Conditions
Type 1 Diabetes, Monogenic Diabetes
Interventions
Metformin Extended Release Oral Tablet, Sitagliptin
Drug
Lead sponsor
Joslin Diabetes Center
Other
Eligibility
Up to 85 Years
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2024
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Feb 23, 2025 · Synced Sep 7, 2026, 8:23 AM EDT
Completed Not applicable Interventional

The VetSeq Study: a Pilot Study of Genome Sequencing in Veteran Care

NCT03380819
View directory record Official record
Conditions
Rare Diseases, Genetic Disease
Interventions
Genome sequencing
Diagnostic Test
Lead sponsor
VA Boston Healthcare System
Federal
Eligibility
Not listed
Enrollment
2 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2022
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Apr 25, 2023 · Synced Sep 7, 2026, 8:23 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Genetics of Congenital Heart Disease

NCT01192048
View directory record Official record
Conditions
Congenital Heart Disease
Interventions
Blood Sample Collection
Other
Lead sponsor
Nationwide Children's Hospital
Other
Eligibility
Not listed
Enrollment
5,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2009 – 2030
U.S. locations
1
States / cities
Columbus, Ohio
Source: ClinicalTrials.gov public record
Updated Apr 6, 2026 · Synced Sep 7, 2026, 8:23 AM EDT
Completed Phase 2 Interventional Results available

Study of Enzalutamide in Patients With Castration-resistant Prostate Cancer

NCT01942837
View directory record Official record
Conditions
Metastatic Castration-resistant Prostate Cancer
Interventions
Enzalutamide
Drug
Lead sponsor
Dana-Farber Cancer Institute
Other
Eligibility
18 Years and older · Male only
Enrollment
67 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2022
U.S. locations
5
States / cities
Boston, Massachusetts • Weymouth, Massachusetts • Seattle, Washington
Source: ClinicalTrials.gov public record
Updated Oct 23, 2022 · Synced Sep 7, 2026, 8:23 AM EDT
Recruiting No phase listed Observational

Genomic Profiling in Cancer Patients

NCT01775072
View directory record Official record
Conditions
Solid Tumors, Hematologic Cancers
Interventions
molecular profiling of tumors, Clinical Germline Analysis
Genetic
Lead sponsor
Memorial Sloan Kettering Cancer Center
Other
Eligibility
Not listed
Enrollment
200 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2027
U.S. locations
18
States / cities
Bridgeport, Connecticut • Hartford, Connecticut • Norwalk, Connecticut + 13 more
Source: ClinicalTrials.gov public record
Updated Jul 8, 2026 · Synced Sep 7, 2026, 8:23 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Exome Sequencing in Autistic Spectrum Disorder

NCT01059201
View directory record Official record
Conditions
Autism Spectrum Disorder, Autism, Autistic Disorder
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
Not listed
Enrollment
322 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2010 – 2017
U.S. locations
3
States / cities
Baltimore, Maryland • Bethesda, Maryland • Columbus, Ohio
Source: ClinicalTrials.gov public record
Updated Dec 16, 2019 · Synced Sep 7, 2026, 8:23 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

North Carolina Newborn Exome Sequencing for Universal Screening

NCT02826694
View directory record Official record
Conditions
Metabolism, Inborn Errors, Hearing Loss, Hereditary Disease
Interventions
Well infant, whole exome sequencing, Diagnosed, whole exome sequencing
Genetic
Lead sponsor
University of North Carolina, Chapel Hill
Other
Eligibility
1 Hour to 5 Years
Enrollment
106 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2019
U.S. locations
1
States / cities
Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated Jul 7, 2020 · Synced Sep 7, 2026, 8:23 AM EDT
Completed Not applicable Interventional

IMAGE Study: Personalized Molecular Profiling in Cancer Treatment at Johns Hopkins

NCT01939847
View directory record Official record
Conditions
Metastatic Breast Cancer
Interventions
Treatment suggestion
Other
Lead sponsor
Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins
Other
Eligibility
18 Years and older
Enrollment
32 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2017
U.S. locations
1
States / cities
Baltimore, Maryland
Source: ClinicalTrials.gov public record
Updated Feb 27, 2019 · Synced Sep 7, 2026, 8:23 AM EDT