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Showing 1–24 of 40 matching trials from the live ClinicalTrials.gov search.
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Filters: Intervention: clinical Whole Genome Sequencing Clear all
Withdrawn Not applicable Interventional Accepts healthy volunteers

Development of an Optimal Approach to Return of Results for Next-generation Sequencing for Prenatal Diagnosis

NCT02255825
View directory record Official record
Conditions
Major Fetal Anomaly
Interventions
Whole Genome Sequencing, Amniocentesis, Psychosocial assessment
Genetic · Procedure · Other
Lead sponsor
University of California, San Diego
Other
Eligibility
18 Years and older
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2019
U.S. locations
1
States / cities
San Diego, California
Source: ClinicalTrials.gov public record
Updated Jun 5, 2019 · Synced Sep 24, 2026, 4:58 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

Clinical Implementation of Carrier Status Using Next Generation Sequencing

NCT01902901
View directory record Official record
Conditions
Genetic Disorders
Interventions
Whole Genome Sequencing, Carrier status testing
Genetic
Lead sponsor
Kaiser Permanente
Other
Eligibility
21 Years to 50 Years
Enrollment
384 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2018
U.S. locations
1
States / cities
Portland, Oregon
Source: ClinicalTrials.gov public record
Updated Apr 16, 2019 · Synced Sep 24, 2026, 4:58 AM EDT
Not listed Not applicable Interventional

CardioSeq: Impact of WGS in Individuals With CVD

NCT05656183
View directory record Official record
Conditions
Cardiovascular Diseases
Interventions
TruGenome Cardiovascular Disease test
Diagnostic Test
Lead sponsor
Illumina, Inc.
Industry
Eligibility
18 Years and older
Enrollment
1,500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2025
U.S. locations
1
States / cities
Detroit, Michigan
Source: ClinicalTrials.gov public record
Updated Apr 29, 2024 · Synced Sep 24, 2026, 4:58 AM 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 24, 2026, 4:58 AM EDT
Recruiting Phase 1Phase 2 Interventional

A Phase 1/2 Study of Intravenous Gene Transfer With an AAV9 Vector Expressing Human Beta-galactosidase in Type I and Type II GM1 Gangliosidosis

NCT03952637
View directory record Official record
Conditions
Lysosomal Diseases, Gangliosidosis, GM1
Interventions
AAV9-GLB1, Abdominal ultrasound, Rituximab, Sirolimus, Methylprednisolone, Prednisone, Audiology assessment with ABR, Bone density scan (DEXA), Electrocardiogram (EKG), Echocardiogram, Electroencephalogram (EEG) awake and extended overnight, Laboratory tests, Lumbar puncture, Brain MRI/MRS/fMRI, Neurocognitive testing, Neurology exam, PICC or other Central line placement, Skeletal survey, Skin biopsy, Speech and modified barium swallow study, Ophthalmology exam
Biological · Procedure · Drug + 3 more
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
6 Months to 12 Years
Enrollment
54 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2030
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 20, 2026 · Synced Sep 24, 2026, 4:58 AM EDT
Completed Not applicable Interventional

Genomic Sequencing in Acutely Ill Neonates

NCT02225522
View directory record Official record
Conditions
Diseases/Diagnoses, Genetic Disease
Interventions
Rapid whole genome sequencing (StatSeq)
Other
Lead sponsor
Children's Mercy Hospital Kansas City
Other
Eligibility
Up to 4 Months
Enrollment
65 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2016
U.S. locations
1
States / cities
Kansas City, Missouri
Source: ClinicalTrials.gov public record
Updated Jun 22, 2017 · Synced Sep 24, 2026, 4:58 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 24, 2026, 4:58 AM EDT
Withdrawn No phase listed Observational

PUER ("Previously Unrecognized Emerging Risks") Life Clinical Study (PUER) in Ages 6 Through 18

NCT06802029
View directory record Official record
Conditions
Aging
Interventions
Whole Genome Sequencing Analysis
Genetic
Lead sponsor
Puer Research, LLC
Network
Eligibility
6 Years to 18 Years
Timeline
2025 – 2026
U.S. locations
1
States / cities
Atlanta, Georgia
Source: ClinicalTrials.gov public record
Updated Sep 22, 2026 · Synced Sep 24, 2026, 4:58 AM EDT
Enrolling by invitation Not applicable Interventional Accepts healthy volunteers

Rapid Whole Genome Sequencing Study

NCT03385876
View directory record Official record
Conditions
Genetic Diseases, Genetic Syndrome
Interventions
Genomic sequencing and molecular diagnostic results, if any
Genetic
Lead sponsor
Rady Pediatric Genomics & Systems Medicine Institute
Other
Eligibility
Not listed
Enrollment
100,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2017 – 2050
U.S. locations
1
States / cities
San Diego, California
Source: ClinicalTrials.gov public record
Updated Dec 22, 2021 · Synced Sep 24, 2026, 4:58 AM EDT
Enrolling by invitation No phase listed Observational

UW ISeqU: Clinical Impact of Whole-genome Sequencing in Adults

NCT07718971
View directory record Official record
Conditions
Hereditary Diseases, Critical Illness
Interventions
Genome sequencing
Genetic
Lead sponsor
University of Washington
Other
Eligibility
18 Years to 50 Years
Enrollment
1,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2032
U.S. locations
1
States / cities
Seattle, Washington
Source: ClinicalTrials.gov public record
Updated Jul 21, 2026 · Synced Sep 24, 2026, 4:58 AM 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 24, 2026, 4:58 AM EDT
Completed Not applicable Interventional

NYCKidSeq: Incorporating Genomics Into Clinical Care of Diverse NYC Children

NCT03738098
View directory record Official record
Conditions
Genetic Diseases, Inborn, Genetic Predisposition to Disease
Interventions
Standard of Care, GUÍA
Behavioral
Lead sponsor
Icahn School of Medicine at Mount Sinai
Other
Eligibility
Up to 21 Years
Enrollment
650 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2022
U.S. locations
2
States / cities
New York, New York • The Bronx, New York
Source: ClinicalTrials.gov public record
Updated Dec 12, 2023 · Synced Sep 24, 2026, 4:58 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 24, 2026, 4:58 AM 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 24, 2026, 4:58 AM EDT
Terminated No phase listed Observational

Clinical Performance Evaluation of the C2i-Test

NCT05221827
View directory record Official record
Conditions
Muscle-Invasive Bladder Carcinoma
Interventions
C2i Test
Diagnostic Test
Lead sponsor
C2i Genomics
Industry
Eligibility
22 Years to 100 Years
Enrollment
3 participants
Timeline
2022
U.S. locations
1
States / cities
Bloomfield, New Jersey
Source: ClinicalTrials.gov public record
Updated Feb 26, 2023 · Synced Sep 24, 2026, 4:58 AM 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 24, 2026, 4:58 AM 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 24, 2026, 4:58 AM 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 24, 2026, 4:58 AM EDT
Enrolling by invitation No phase listed Observational Accepts healthy volunteers

Health eHeart BioBank

NCT06976502
View directory record Official record
Conditions
Heart Diseases, Cardiac Diseases, Vascular Diseases, Cardiovascular Diseases
Interventions
Blood Draw, Tissue Collection, DNA Collection, Medical Chart Review
Procedure · Other
Lead sponsor
University of California, San Francisco
Other
Eligibility
18 Years and older
Enrollment
500,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2025 – 2035
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated Jul 13, 2026 · Synced Sep 24, 2026, 4:58 AM EDT
Completed Not applicable Interventional Results available

Clinical Utility of Pediatric Whole Exome Sequencing

NCT03525431
View directory record Official record
Conditions
Encephalopathy, Birth Defect, Intellectual Disability, Multiple Congenital Anomaly, Metabolic Disease, Epilepsy, Neuro-Degenerative Disease, Cerebral Palsy, Developmental Delay, Developmental Defect
Interventions
Whole Exome Sequencing
Diagnostic Test
Lead sponsor
University of California, San Francisco
Other
Eligibility
Up to 25 Years
Enrollment
529 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2022
U.S. locations
4
States / cities
Fresno, California • Oakland, California • San Francisco, California
Source: ClinicalTrials.gov public record
Updated Jul 17, 2023 · Synced Sep 24, 2026, 4:58 AM EDT
Active, not recruiting No phase listed Observational Accepts healthy volunteers

Continuous N-of-1 Computational Feasibility Study of a Whole Genome Sequence

NCT07462234
View directory record Official record
Conditions
Computational Modeling of Individual Metabolic Pathways
Interventions
Not listed
Lead sponsor
Bioactify LLC
Other
Eligibility
Female only
Enrollment
1 participant
Healthy volunteers
Accepts healthy volunteers
Timeline
2026 – 2027
U.S. locations
1
States / cities
Wappingers Falls, New York
Source: ClinicalTrials.gov public record
Updated Mar 9, 2026 · Synced Sep 24, 2026, 4:58 AM 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 24, 2026, 4:58 AM EDT
Completed Not applicable Interventional

Investigating the Feasibility and Implementation of Whole Genome Sequencing in Patients With Suspected Genetic Disorder

NCT03829176
View directory record Official record
Conditions
Hereditary Disease, Genetic Predisposition to Disease
Interventions
Whole Genome Sequencing
Genetic
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
3 Months and older
Enrollment
200 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2020
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Nov 17, 2020 · Synced Sep 24, 2026, 4:58 AM 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 24, 2026, 4:58 AM EDT