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Showing 1–24 of 97 matching trials from the live ClinicalTrials.gov search.
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Filters: Intervention: Whole Genome Sequencing Clear all
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 3, 2026, 6:04 AM EDT
Recruiting No phase listed Observational

Genetic Studies of Strabismus, Nystagmus, and Associated Disorders

NCT04770519
View directory record Official record
Conditions
Strabismus, Nystagmus, Congenital
Interventions
whole genome sequencing or whole exome sequencing
Genetic
Lead sponsor
Boston Children's Hospital
Other
Eligibility
Not listed
Enrollment
400 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2030
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Dec 11, 2025 · Synced Sep 3, 2026, 6:04 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 3, 2026, 6:04 AM EDT
Not listed No phase listed Observational

Assessment of the TGF-beta Pathway and Micro-RNA in Pediatric Pulmonary Arterial Hypertension

NCT04489251
View directory record Official record
Conditions
Pulmonary Arterial Hypertension
Interventions
Protein Elisa analysis, microRNA analysis, whole exome sequencing
Diagnostic Test
Lead sponsor
Medical College of Wisconsin
Other
Eligibility
2 Years to 17 Years
Enrollment
40 participants
Timeline
2020 – 2023
U.S. locations
1
States / cities
Milwaukee, Wisconsin
Source: ClinicalTrials.gov public record
Updated Nov 21, 2021 · Synced Sep 3, 2026, 6:04 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 3, 2026, 6:04 AM EDT
Recruiting No phase listed Observational

Mental Health Crises in Youth With IDDs

NCT05471232
View directory record Official record
Conditions
Intellectual Disability
Interventions
Genomic sequencing and molecular diagnostic results, if any., EHR-Based Network Model
Genetic · Other
Lead sponsor
Rady Pediatric Genomics & Systems Medicine Institute
Other
Eligibility
7 Years to 17 Years
Enrollment
150 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2027
U.S. locations
1
States / cities
San Diego, California
Source: ClinicalTrials.gov public record
Updated Aug 8, 2024 · Synced Sep 3, 2026, 6:04 AM EDT
Not listed No phase listed Observational

Genetic Mechanisms Underlying SARS-CoV-2 Infection and the Impact of COVID-19 on Cognitive Function

NCT04506229
View directory record Official record
Conditions
Covid19
Interventions
Whole exome sequencing
Genetic
Lead sponsor
Texas Cardiac Arrhythmia Research Foundation
Other
Eligibility
18 Years and older
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2021
U.S. locations
1
States / cities
Austin, Texas
Source: ClinicalTrials.gov public record
Updated Aug 26, 2020 · Synced Sep 3, 2026, 6:04 AM EDT
Not listed No phase listed Observational

Utility of Rapid Whole Genome Sequencing in the NICU: A Pilot Study

NCT03918707
View directory record Official record
Conditions
Genetic Disease, Genetic Syndrome
Interventions
Rapid Whole Genome Sequencing (rWGS)
Diagnostic Test
Lead sponsor
University of Illinois College of Medicine at Peoria
Other
Eligibility
0 Months to 4 Months
Enrollment
115 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2022
U.S. locations
1
States / cities
Peoria, Illinois
Source: ClinicalTrials.gov public record
Updated May 26, 2021 · Synced Sep 3, 2026, 6:04 AM EDT
Completed No phase listed Observational

Integrated Whole-Genome Analysis of Hematologic Disorders

NCT01108159
View directory record Official record
Conditions
Hematologic Diseases
Interventions
Blood Draw, Skin Biopsy
Procedure
Lead sponsor
Stanford University
Other
Eligibility
18 Years and older
Enrollment
35 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2013
U.S. locations
1
States / cities
Stanford, California
Source: ClinicalTrials.gov public record
Updated May 30, 2018 · Synced Sep 3, 2026, 6:04 AM 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 3, 2026, 6:04 AM EDT
Completed Not applicable Interventional

NICUSeq: A Trial to Evaluate the Clinical Utility of Human Whole Genome Sequencing (WGS) Compared to Standard of Care in Acute Care Neonates and Infants

NCT03290469
View directory record Official record
Conditions
Rare Diseases
Interventions
clinical whole genome sequencing (cWGS)
Other
Lead sponsor
Illumina, Inc.
Industry
Eligibility
1 Day to 120 Days
Enrollment
355 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2020
U.S. locations
5
States / cities
Orange, California • St Louis, Missouri • Omaha, Nebraska + 2 more
Source: ClinicalTrials.gov public record
Updated Nov 17, 2020 · Synced Sep 3, 2026, 6:04 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

The CurePSP Genetics Program

NCT06647641
View directory record Official record
Conditions
PSP, PSP - Progressive Supranuclear Palsy, Corticobasal Syndrome, Corticobasal Syndrome(CBS), Corticobasal Degeneration Syndrome, Corticobasal Degeneration, Corticobasal Degeneration (CBD), Corticobasal Syndrome (CBS), MSA, MSA - Multiple System Atrophy, MSA-C, Multiple System Atrophy, Multiple System Atrophy (MSA) With Orthostatic Hypotension, Multiple System Atrophy - Cerebellar Subtype (MSA-C), Multiple System Atrophy - Parkinsonian Subtype (MSA-P), Multiple System Atrophy, Cerebellar Type, Multiple System Atrophy, Parkinsonian Type, Progressive Supranuclear Palsy, Progressive Supranuclear Palsy(PSP), Progressive Supranuclear Palsy (PSP)
Interventions
Whole genome sequencing will be performed at the NIH
Other
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
35 Years and older
Enrollment
1,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2024 – 2030
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jan 13, 2026 · Synced Sep 3, 2026, 6:04 AM EDT
Not listed Not applicable Interventional Results available

Perinatal Precision Medicine

NCT03211039
View directory record Official record
Conditions
Genetic Diseases, Genetic Syndrome, Mendelian Disorders
Interventions
Genomic sequencing and molecular diagnostic results, if any.
Genetic
Lead sponsor
Rady Pediatric Genomics & Systems Medicine Institute
Other
Eligibility
Up to 4 Months
Enrollment
213 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2024
U.S. locations
1
States / cities
San Diego, California
Source: ClinicalTrials.gov public record
Updated Feb 29, 2024 · Synced Sep 3, 2026, 6:04 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 3, 2026, 6:04 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

South-seq: Deoxyribonucleic Acid (DNA) Sequencing for Newborn Nurseries in the South

NCT03842995
View directory record Official record
Conditions
Whole Genome Sequencing
Interventions
Genetic Counselor, Trained Healthcare Provider
Behavioral
Lead sponsor
University of Alabama at Birmingham
Other
Eligibility
Not listed
Enrollment
477 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2023
U.S. locations
3
States / cities
Birmingham, Alabama • Baton Rouge, Louisiana • Jackson, Mississippi
Source: ClinicalTrials.gov public record
Updated Dec 12, 2024 · Synced Sep 3, 2026, 6:04 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 3, 2026, 6:04 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Newborn Genomic Sequencing Pilot Study

NCT06276348
View directory record Official record
Conditions
Genetic Disease
Interventions
Whole genome sequencing, BeginNGS test, WES
Genetic
Lead sponsor
Rady Pediatric Genomics & Systems Medicine Institute
Other
Eligibility
1 Day to 10 Days
Enrollment
120 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023 – 2024
U.S. locations
1
States / cities
San Diego, California
Source: ClinicalTrials.gov public record
Updated Nov 13, 2024 · Synced Sep 3, 2026, 6:04 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 3, 2026, 6:04 AM EDT
Completed Phase 2 Interventional Results available

Study of Ibrutinib in Patients With Symptomatic, Previously Untreated Waldenstrom's Macroglobulinemia, and Impact on Tumor Genomic Evolution Using Whole Genome Sequencing

NCT02604511
View directory record Official record
Conditions
Waldenstrom's Macroglobulinemia
Interventions
Ibrutinib
Drug
Lead sponsor
Dana-Farber Cancer Institute
Other
Eligibility
18 Years and older
Enrollment
31 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2022
U.S. locations
2
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Dec 6, 2022 · Synced Sep 3, 2026, 6:04 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 3, 2026, 6:04 AM EDT
Completed Not applicable Interventional Results available

Endoscopic Ultrasound Guided Fine Needle Biopsy (EUS-FNB-SC) Using a Novel Fork Needle

NCT02678442
View directory record Official record
Conditions
Pancreatic Cancer
Interventions
Fine Needle Biopsy (FNB), Fine Needle Aspiration (FNA)
Device
Lead sponsor
Mayo Clinic
Other
Eligibility
18 Years to 100 Years
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2018
U.S. locations
1
States / cities
Jacksonville, Florida
Source: ClinicalTrials.gov public record
Updated Jan 5, 2020 · Synced Sep 3, 2026, 6:04 AM EDT
Recruiting Not applicable Interventional

Individualized Treatment Plan in Children and Young Adults With Relapsed Medulloblastoma and Ependymoma

NCT05057702
View directory record Official record
Conditions
Medulloblastoma, Medulloblastoma, Childhood, Medulloblastoma Recurrent, Ependymoma, Ependymoma Malignant, Ependymoma of Brain
Interventions
Specialized Tumor Board Treatment Plan, Combinations
Other
Lead sponsor
University of California, San Francisco
Other
Eligibility
12 Months to 39 Years
Enrollment
74 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2028
U.S. locations
9
States / cities
Los Angeles, California • San Diego, California • San Francisco, California + 5 more
Source: ClinicalTrials.gov public record
Updated Aug 10, 2026 · Synced Sep 3, 2026, 6:04 AM EDT
Completed No phase listed Observational

Pregnant Women s Views About the Ethics of Prenatal Whole Genome Sequencing

NCT03105492
View directory record Official record
Conditions
Pregnant
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years to 50 Years · Female only
Enrollment
553 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2019
U.S. locations
1
States / cities
Falls Church, Virginia
Source: ClinicalTrials.gov public record
Updated Apr 21, 2019 · Synced Sep 3, 2026, 6:04 AM EDT
Completed Not applicable Interventional Results available

Clinical Utility of Prenatal Whole Exome Sequencing

NCT03482141
View directory record Official record
Conditions
Structural Anomalies, Cardiac Anomalies, Central Nervous System Anomalies, Thorax Anomalies, Genito-urinary Anomalies, Gastrointestinal Anomalies, Skeletal Anomalies, Multiple Anomalies
Interventions
Whole Exome Sequencing (WES)
Device
Lead sponsor
University of California, San Francisco
Other
Eligibility
18 Years to 64 Years · Female only
Enrollment
316 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2022
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated Apr 13, 2023 · Synced Sep 3, 2026, 6:04 AM EDT