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Showing 1–24 of 46 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Whole Genome Sequencing Clear all
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 Jun 25, 2026, 4:41 PM EDT
Completed No phase listed Observational

Next Generation to Identify Genetic Causes of Disease in Patients Participating in NICHD Clinical Protocols

NCT01375543
View directory record Official record
Conditions
Genetic Predisposition
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
Not listed
Enrollment
128 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2019
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jan 5, 2020 · Synced Jun 25, 2026, 4:41 PM EDT
Recruiting No phase listed Observational

IPGx PILOT Whole Genome Sequencing Extension Cohort

NCT06766071
View directory record Official record
Conditions
Adverse Drug Reaction (ADR), Polypharmacy Patients
Interventions
Not listed
Lead sponsor
Texas A&M University
Other
Eligibility
18 Years to 100 Years
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2026
U.S. locations
1
States / cities
Bryan, Texas
Source: ClinicalTrials.gov public record
Updated Jan 8, 2025 · Synced Jun 25, 2026, 4:41 PM 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 Jun 25, 2026, 4:41 PM EDT
Recruiting Not applicable Interventional Accepts healthy volunteers

Whole Genome Sequencing (ChromoSeq) as an Adjunct to Conventional Genomic Profiling in AML and MDS

NCT04986657
View directory record Official record
Conditions
Whole Genome Sequencing, Acute Myeloid Leukemia, Myelodysplastic Syndromes
Interventions
ChromoSeq
Device
Lead sponsor
Washington University School of Medicine
Other
Eligibility
18 Years and older
Enrollment
325 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2027
U.S. locations
1
States / cities
St Louis, Missouri
Source: ClinicalTrials.gov public record
Updated Oct 15, 2025 · Synced Jun 25, 2026, 4:41 PM EDT
Recruiting No phase listed Observational

Whole Genome Sequencing (ChromoSeq®) for Acute Lymphoblastic Leukemia (ALL) Patients

NCT07313592
View directory record Official record
Conditions
Acute Lymphoblastic Leukemia
Interventions
ChromoSeq® assay testing
Device
Lead sponsor
Washington University School of Medicine
Other
Eligibility
Up to 30 Years
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2028
U.S. locations
1
States / cities
St Louis, Missouri
Source: ClinicalTrials.gov public record
Updated Jun 9, 2026 · Synced Jun 25, 2026, 4:41 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 Jun 25, 2026, 4:41 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 Jun 25, 2026, 4:41 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 Jun 25, 2026, 4:41 PM EDT
Recruiting Not applicable Interventional Accepts healthy volunteers

Whole Genome Sequencing (ChromoSeq) as an Adjunct to Conventional Genomic Profiling in MDS

NCT05434598
View directory record Official record
Conditions
Whole Genome Sequencing, Myelodysplastic Syndromes
Interventions
ChromoSeq
Device
Lead sponsor
Washington University School of Medicine
Other
Eligibility
18 Years and older
Enrollment
60 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2027
U.S. locations
1
States / cities
St Louis, Missouri
Source: ClinicalTrials.gov public record
Updated Dec 10, 2025 · Synced Jun 25, 2026, 4:41 PM 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 Jun 25, 2026, 4:41 PM EDT
Completed No phase listed Observational

A Study of Consent Forms for Whole Exome and Whole Genome Sequencing

NCT01927770
View directory record Official record
Conditions
Whole Genome Sequencing
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years and older
Enrollment
212 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2021
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Nov 9, 2021 · Synced Jun 25, 2026, 4:41 PM 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 Jun 25, 2026, 4:41 PM 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 Jun 25, 2026, 4:41 PM EDT
Recruiting No phase listed Observational

Diagnostic Odyssey: Whole Genome Sequencing (WGS)

NCT03458962
View directory record Official record
Conditions
Genetic Disease, Genetic Syndrome
Interventions
Genetic Enrollees
Genetic
Lead sponsor
Nicklaus Children's Hospital f/k/a Miami Children's Hospital
Other
Eligibility
Up to 21 Years
Enrollment
1,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2070
U.S. locations
1
States / cities
Miami, Florida
Source: ClinicalTrials.gov public record
Updated Nov 6, 2024 · Synced Jun 25, 2026, 4:41 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 Jun 25, 2026, 4:41 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

A Pilot Project Exploring the Impact of Whole Genome Sequencing in Healthcare

NCT01736566
View directory record Official record
Conditions
Healthy Adults (Full Study and Extension Phase), Hypertrophic Cardiomyopathy or Dilated Cardiomyopathy
Interventions
Family History + Whole Genome Sequencing, Family History Only
Other
Lead sponsor
Brigham and Women's Hospital
Other
Eligibility
18 Years to 90 Years
Enrollment
213 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2011 – 2021
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Aug 26, 2024 · Synced Jun 25, 2026, 4:41 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Study of ALS Reversals 2: Genetic Analyses

NCT03464903
View directory record Official record
Conditions
Amyotrophic Lateral Sclerosis, Progressive Muscular Atrophy
Interventions
Not listed
Lead sponsor
Duke University
Other
Eligibility
Not listed
Enrollment
26 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2023
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Jan 10, 2024 · Synced Jun 25, 2026, 4:41 PM 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 Jun 25, 2026, 4:41 PM 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 Jun 25, 2026, 4:41 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 Jun 25, 2026, 4:41 PM 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 Jun 25, 2026, 4:41 PM 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 Jun 25, 2026, 4:41 PM 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 Jun 25, 2026, 4:41 PM EDT