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ClinicalTrials.gov public records Last synced Sep 28, 2026, 5:33 PM EDT

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Showing 25–48 of 24 matching trials from the live ClinicalTrials.gov search.
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Filters: Intervention: Whole genome sequencing Clear all
Completed Not applicable Interventional Results available

Return of Genomic Results and Aggregate Penetrance in Population-Based Cohorts

NCT04196374
View directory record Official record
Conditions
Seemingly Healthy, Genetic Predisposition to Disease
Interventions
Genomic Sequencing
Genetic
Lead sponsor
Brigham and Women's Hospital
Other
Eligibility
18 Years to 100 Years
Enrollment
7,603 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2025
U.S. locations
2
States / cities
Framingham, Massachusetts • Jackson, Mississippi
Source: ClinicalTrials.gov public record
Updated Aug 2, 2026 · Synced Sep 28, 2026, 5:33 PM EDT
Enrolling by invitation Not applicable Interventional

Uncovering the Etiologies of Non-immune Hydrops Fetalis

NCT05528796
View directory record Official record
Conditions
Non-Immune Hydrops Fetalis
Interventions
Whole genome sequencing
Diagnostic Test
Lead sponsor
University of California, San Francisco
Other
Eligibility
18 Years to 60 Years
Enrollment
500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2027
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated Apr 16, 2026 · Synced Sep 28, 2026, 5:33 PM EDT
Completed No phase listed Observational

Informed Consent for Whole Genome Sequencing: Ideals and Norms Referenced by Early Participants

NCT01369953
View directory record Official record
Conditions
Coronary Artery Disease, Proteus Syndrome, Coffin - Sins Syndrome, Familial Isolated Hyperparathyroidism, Dubouitz Syndrome
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years to 65 Years
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2014
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 25, 2018 · Synced Sep 28, 2026, 5:33 PM EDT
Recruiting No phase listed Observational

INTERogating Cancer for Etiology, Prevention and Therapy Navigation

NCT06008392
View directory record Official record
Conditions
Cancer, Cancer Gene Mutation, PAN Gene Mutation, Hematopoietic and Lymphoid System Neoplasm, Malignant Solid Neoplasm
Interventions
Pan-genomic Testing
Genetic
Lead sponsor
Mayo Clinic
Other
Eligibility
18 Years and older
Enrollment
500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2033
U.S. locations
3
States / cities
Scottsdale, Arizona • Jacksonville, Florida • Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated Apr 6, 2026 · Synced Sep 28, 2026, 5:33 PM EDT
Terminated Phase 2 Interventional

Phase II Study Using Genomic & Proteomic Profiling to Influence Treatments for Patients With Metastatic Breast Cancer

NCT02008994
View directory record Official record
Conditions
Metastatic Breast Cancer
Interventions
Genomic and Proteomic Profiling
Other
Lead sponsor
Sanford Health
Other
Eligibility
18 Years and older
Enrollment
5 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2014
U.S. locations
1
States / cities
Sioux Falls, South Dakota
Source: ClinicalTrials.gov public record
Updated Mar 23, 2015 · Synced Sep 28, 2026, 5:33 PM EDT
Not listed No phase listed Observational

Whole Genome Sequencing (WGS) on IVF Embryos and Individual Patients

NCT05739890
View directory record Official record
Conditions
Fertility Issues, Single-Gene Defects
Interventions
Embryo genome sequencing, Parents genome sequencing
Other
Lead sponsor
GenEmbryomics Pty. Ltd
Industry
Eligibility
18 Years to 48 Years
Enrollment
100 participants
Timeline
2023 – 2024
U.S. locations
3
States / cities
New York, New York • Portland, Oregon • Kirkland, Washington
Source: ClinicalTrials.gov public record
Updated Sep 24, 2023 · Synced Sep 28, 2026, 5:33 PM 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 28, 2026, 5:33 PM EDT
Completed No phase listed Observational

Comprehensive Gene Sequencing in Guiding Treatment Recommendations Patients With Metastatic or Recurrent Solid Tumors

NCT01987726
View directory record Official record
Conditions
Recurrent Breast Cancer, Recurrent Colon Cancer, Recurrent Rectal Cancer, Stage IV Breast Cancer, Stage IVA Colon Cancer, Stage IVA Rectal Cancer, Stage IVB Colon Cancer, Stage IVB Rectal Cancer
Interventions
cytology specimen collection procedure, laboratory biomarker analysis
Other
Lead sponsor
Ohio State University Comprehensive Cancer Center
Other
Eligibility
18 Years and older
Enrollment
150 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2021
U.S. locations
1
States / cities
Columbus, Ohio
Source: ClinicalTrials.gov public record
Updated Oct 27, 2021 · Synced Sep 28, 2026, 5:33 PM EDT
Recruiting No phase listed Observational

TSC Biosample Repository and Natural History Database

NCT05676099
View directory record Official record
Conditions
Tuberous Sclerosis, Lymphangioleiomyomatosis
Interventions
Phlebotomy, Buccal (cheek) swab, Genetic Testing, Tissue donation after routine clinical procedure
Procedure · Genetic · Other
Lead sponsor
National Tuberous Sclerosis Association
Other
Eligibility
Not listed
Enrollment
5,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2050
U.S. locations
24
States / cities
Birmingham, Alabama • Loma Linda, California • Los Angeles, California + 19 more
Source: ClinicalTrials.gov public record
Updated Jun 23, 2026 · Synced Sep 28, 2026, 5:33 PM EDT
Not listed No phase listed Observational

Molecular Testing of Cancer by Integrated Genomic, Transcriptomic, and Proteomic Analysis

NCT02213822
View directory record Official record
Conditions
Solid Tumors, Hematological Malignancies
Interventions
Molecular Analysis of Cancer
Other
Lead sponsor
Rhode Island Hospital
Other
Eligibility
18 Years and older
Enrollment
500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2015
U.S. locations
3
States / cities
East Greenwich, Rhode Island • Providence, Rhode Island
Source: ClinicalTrials.gov public record
Updated Aug 26, 2014 · Synced Sep 28, 2026, 5:33 PM EDT
Completed No phase listed Observational

Whole Genome Sequencing in the Neonatal Intensive Care Unit

NCT03721458
View directory record Official record
Conditions
Genetic Diseases, Inborn
Interventions
Sequence
Other
Lead sponsor
Milton S. Hershey Medical Center
Other
Eligibility
1 Day and older
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2020
U.S. locations
1
States / cities
Hershey, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jan 31, 2021 · Synced Sep 28, 2026, 5:33 PM EDT
Active, not recruiting Phase 3 Interventional

A Study to Evaluate Efficacy and Safety of Giredestrant Compared With Fulvestrant (Plus a CDK4/6 Inhibitor), in Participants With ER-Positive, HER2-Negative Advanced Breast Cancer Resistant to Adjuvant Endocrine Therapy (pionERA Breast Cancer)

NCT06065748
View directory record Official record
Conditions
Estrogen Receptor-Positive, HER2-Negative Advanced Breast Cancer
Interventions
Giredestrant, Fulvestrant, Abemaciclib, Palbociclib, Ribociclib, LHRH Agonist, FoundationOne Liquid CDx Assay (F1LCDx)
Drug · Diagnostic Test
Lead sponsor
Hoffmann-La Roche
Industry
Eligibility
18 Years and older
Enrollment
1,050 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2029
U.S. locations
40
States / cities
Daphne, Alabama • Greenbrae, California • Harbor City, California + 34 more
Source: ClinicalTrials.gov public record
Updated Sep 13, 2026 · Synced Sep 28, 2026, 5:33 PM EDT
Recruiting Not applicable Interventional

A Synthetic Lethality-Focused Algorithm to Identify Therapeutic Options in Advanced Metastatic Breast Cancer (SYNTHESIS-Breast)

NCT07067138
View directory record Official record
Conditions
Breast Cancer, Breast Carcinoma, Cancer of the Breast, Malignant Neoplasm of Breast
Interventions
Expression Networks for highLIGHting Tumor vulnerabilities (ENLIGHT), TruSight(R) Oncology 500, TruSeq Matched Tumor Normal Whole Exome Sequencing Assay
Device
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
18 Years to 120 Years
Enrollment
175 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2029
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Aug 20, 2026 · Synced Sep 28, 2026, 5:33 PM EDT
Recruiting Phase 4 Interventional Accepts healthy volunteers

Covid-19 Long Haul Preventative and Health Promotion Care Clinical Trial Acceleration Program.

NCT06441955
View directory record Official record
Conditions
COVID-19, Long Haul
Interventions
Ritonavir-Boosted Nirmatrelvir (Paxlovid), Physiological Evaluation, Moderna COVID-19 Vaccine, Biopsychological, Behavioral (e.g., Psychotherapy, Lifestyle Counseling), Genetic (including gene transfer, stem cell and recombinant DNA), Multidisciplinary approach
Drug · Diagnostic Test · Biological + 3 more
Lead sponsor
Well- Konnect Healthcare Services and Research Firm
Network
Eligibility
18 Years to 65 Years
Enrollment
100 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2024 – 2030
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Nov 26, 2024 · Synced Sep 28, 2026, 5:33 PM EDT
Completed No phase listed Observational

Etiology of Eczema Herpeticum (EH)

NCT03038932
View directory record Official record
Conditions
Eczema Herpeticum
Interventions
Not listed
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
3 Years to 64 Years
Enrollment
69 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2020
U.S. locations
1
States / cities
Denver, Colorado
Source: ClinicalTrials.gov public record
Updated Jan 13, 2021 · Synced Sep 28, 2026, 5:33 PM EDT
Not listed No phase listed Observational Accepts healthy volunteers

Refining Information Technology Support for Genetics in Medicine

NCT01225978
View directory record Official record
Conditions
Hypertrophic Cardiomyopathy, Hearing Loss, Cancer
Interventions
GeneInsight Clinic (GIC)
Device
Lead sponsor
Brigham and Women's Hospital
Other
Eligibility
Not listed
Enrollment
40 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2009 – 2014
U.S. locations
8
States / cities
Boston, Massachusetts • Ann Arbor, Michigan
Source: ClinicalTrials.gov public record
Updated Jan 23, 2014 · Synced Sep 28, 2026, 5:33 PM EDT
Completed Not applicable Interventional

UC-GENOME: Urothelial Cancer-GENOmic Analysis to iMprove Patient Outcomes and rEsearch

NCT02643043
View directory record Official record
Conditions
Urothelial Carcinoma, Bladder Cancer, Urethral Cancer, Cancer of the Ureter
Interventions
Biospecimen Collection
Other
Lead sponsor
Matthew Milowsky, MD
Other
Eligibility
18 Years and older
Enrollment
219 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2023
U.S. locations
8
States / cities
Los Angeles, California • Chicago, Illinois • Baltimore, Maryland + 4 more
Source: ClinicalTrials.gov public record
Updated Sep 28, 2023 · Synced Sep 28, 2026, 5:33 PM EDT
Recruiting Not applicable Interventional

The Sequencing for Detection in Congenital Heart Disease (SD-CHD) Study

NCT06244940
View directory record Official record
Conditions
Congenital Heart Disease
Interventions
Whole Genome Sequencing (WGC) from subject samples
Diagnostic Test
Lead sponsor
Scripps Translational Science Institute
Other
Eligibility
18 Years and older · Female only
Enrollment
200 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2026
U.S. locations
1
States / cities
San Diego, California
Source: ClinicalTrials.gov public record
Updated Feb 12, 2024 · Synced Sep 28, 2026, 5:33 PM EDT
Recruiting No phase listed Observational

Investigation of the Genetics of Hematologic Diseases

NCT02720679
View directory record Official record
Conditions
Bone Marrow Failure Syndromes, Erythrocyte Disorder, Leukocyte Disorder, Hemostasis, Blood Coagulation Disorder, Sickle Cell Disease, Dyskeratosis Congenita, Diamond-Blackfan Anemia, Congenital Thrombocytopenia, Severe Congenital Neutropenia, Fanconi Anemia, Myelodysplastic Syndromes, Myeloproliferative Diseases
Interventions
Not listed
Lead sponsor
St. Jude Children's Research Hospital
Other
Eligibility
Not listed
Enrollment
1,716 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2050
U.S. locations
1
States / cities
Memphis, Tennessee
Source: ClinicalTrials.gov public record
Updated Jun 8, 2026 · Synced Sep 28, 2026, 5:33 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Exome and Genome Analysis to Elucidate Genetic Etiologies and Population Characteristics in the Plain Community

NCT02927158
View directory record Official record
Conditions
Undiagnosed Disease
Interventions
Not listed
Lead sponsor
University of Pittsburgh
Other
Eligibility
Up to 100 Years
Enrollment
300 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2040
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Mar 9, 2026 · Synced Sep 28, 2026, 5:33 PM EDT
Completed Not applicable Interventional Results available

CLUSTER Trial for Outbreak Detection and Response

NCT04053075
View directory record Official record
Conditions
Cluster Detection
Interventions
Routine cluster detection, Enhanced cluster detection
Other
Lead sponsor
Harvard Pilgrim Health Care
Other
Eligibility
Not listed
Enrollment
2,905,455 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2024
U.S. locations
82
States / cities
Riverside, California • San Jose, California • Thousand Oaks, California + 64 more
Source: ClinicalTrials.gov public record
Updated Jan 15, 2025 · Synced Sep 28, 2026, 5:33 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

NeuroSeq: A Prospective Trial to Evaluate the Diagnostic Yield of Whole Genome Sequencing (WGS) in Adult Neurology

NCT04170985
View directory record Official record
Conditions
Neurologic Deficits, Neurologic Disorder, Neurologic Abnormalities
Interventions
clinical Whole Genome Sequencing
Other
Lead sponsor
Illumina, Inc.
Industry
Eligibility
18 Years and older
Enrollment
160 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2024
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Apr 30, 2024 · Synced Sep 28, 2026, 5:33 PM 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 28, 2026, 5:33 PM EDT
Recruiting Not applicable Interventional

Multiomic Diagnostics in Youth With Psychosis

NCT05457140
View directory record Official record
Conditions
Psychosis
Interventions
Genetic: Genomic sequencing and molecular diagnostic results, if any., Phage display ImmunoPrecipiation Sequencing (PhIP-Seq)
Genetic · Diagnostic Test
Lead sponsor
Rady Pediatric Genomics & Systems Medicine Institute
Other
Eligibility
7 Years to 17 Years
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2026
U.S. locations
1
States / cities
San Diego, California
Source: ClinicalTrials.gov public record
Updated Nov 13, 2024 · Synced Sep 28, 2026, 5:33 PM EDT