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ClinicalTrials.gov public records Last synced Sep 30, 2026, 3:34 AM EDT

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Showing 25–47 of 47 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Whole Genome Sequencing Clear all
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 11, 2025 · Synced Sep 30, 2026, 3:34 AM 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 9, 2025 · Synced Sep 30, 2026, 3:34 AM EDT
Active, not 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 Aug 24, 2026 · Synced Sep 30, 2026, 3:34 AM 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 11, 2024 · Synced Sep 30, 2026, 3:34 AM EDT
Completed No phase listed Observational

An Ancillary Pilot Trial Using Whole Genome Sequencing In Patients With Advance Refractory Cancer

NCT01443390
View directory record Official record
Conditions
Advanced Cancer
Interventions
Not listed
Lead sponsor
Scottsdale Healthcare
Other
Eligibility
18 Years and older
Enrollment
11 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2013
U.S. locations
1
States / cities
Scottsdale, Arizona
Source: ClinicalTrials.gov public record
Updated May 14, 2014 · Synced Sep 30, 2026, 3:34 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 10, 2026 · Synced Sep 30, 2026, 3:34 AM 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 6, 2020 · Synced Sep 30, 2026, 3:34 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 17, 2019 · Synced Sep 30, 2026, 3:34 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 18, 2023 · Synced Sep 30, 2026, 3:34 AM EDT
Terminated No phase listed Observational

Evaluation of the NantHealth GPS Cancer Test in Patients With Advanced Cancers

NCT03073473
View directory record Official record
Conditions
Pancreatic Cancer, Metastatic Breast Cancer, Metastatic Lung Cancer, Metastatic Colon Cancer, Metastatic Melanoma, Metastatic Prostate Cancer
Interventions
NantHealth GPS Cancer Test
Diagnostic Test
Lead sponsor
Cota Inc.
Industry
Eligibility
18 Years and older
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2018
U.S. locations
10
States / cities
East Brunswick, New Jersey • Freehold, New Jersey • Hackensack, New Jersey + 7 more
Source: ClinicalTrials.gov public record
Updated Jul 20, 2018 · Synced Sep 30, 2026, 3:34 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 30, 2024 · Synced Sep 30, 2026, 3:34 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 22, 2026 · Synced Sep 30, 2026, 3:34 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 9, 2026 · Synced Sep 30, 2026, 3:34 AM 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 14, 2021 · Synced Sep 30, 2026, 3:34 AM EDT
Enrolling by invitation Not applicable Interventional

Genome Sequencing in the Intensive Care Unit Population

NCT04848090
View directory record Official record
Conditions
Infant, Newborn, Disease, Genetic Disease
Interventions
Neonate WGS Testing
Diagnostic Test
Lead sponsor
Jerry Vockley, MD, PhD
Other
Eligibility
Up to 1 Year
Enrollment
400 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2027
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jan 9, 2026 · Synced Sep 30, 2026, 3:34 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 18, 2020 · Synced Sep 30, 2026, 3:34 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 10, 2026 · Synced Sep 30, 2026, 3:34 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Implementation of Whole Genome Sequencing as Screening in a Diverse Cohort of Healthy Infants

NCT05161169
View directory record Official record
Conditions
Genetic Predisposition to Disease, Hereditary Diseases
Interventions
Genome Sequencing
Genetic
Lead sponsor
Brigham and Women's Hospital
Other
Eligibility
0 Months to 12 Months
Enrollment
500 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2025
U.S. locations
4
States / cities
Birmingham, Alabama • Boston, Massachusetts • Royal Oak, Michigan + 1 more
Source: ClinicalTrials.gov public record
Updated Mar 5, 2026 · Synced Sep 30, 2026, 3:34 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 18, 2020 · Synced Sep 30, 2026, 3:34 AM 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 25, 2023 · Synced Sep 30, 2026, 3:34 AM EDT
Completed No phase listed Observational Results available

LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies

NCT02699190
View directory record Official record
Conditions
Leukodystrophy, White Matter Disease, 4H Syndrome, Adrenoleukodystrophy, AMN, ALD, ALD (Adrenoleukodystrophy), X-linked Adrenoleukodystrophy, X-ALD, Adrenomyeloneuropathy, Aicardi Goutieres Syndrome, AGS, Alexander Disease, Alexanders Leukodystrophy, AxD, ADLD, Canavan Disease, CTX, Cerebrotendinous Xanthomatoses, Krabbe Disease, GALC Deficiency, Globoid Leukodystrophy, TUBB4A-Related Leukodystrophy, H-ABC - Hypomyelination, Atrophy of Basal Ganglia and Cerebellum, HBSL, HBSL - Hypomyelination, Brain Stem, Spinal Cord, Leg Spasticity, LBSL, Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and High Lactate Syndrome (Disorder), Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation, ALSP, CSF1R Gene Mutation, HCC - Hypomyelination and Congenital Cataract, MLC1, Megalencephalic Leukoencephalopathy With Subcortical Cysts 1, MLD, Metachromatic Leukodystrophy, PMD, Pelizaeus-Merzbacher Disease, PLP1 Null Syndrome, PLP1 Gene Duplication | Blood or Tissue | Mutations, Pelizaeus-Merzbacher-Like Disease, 1, Peroxisomal Biogenesis Disorder, Zellweger Syndrome, Refsum Disease, Salla Disease, Sialic Storage Disease, Sjögren, Sjogren-Larsson Syndrome, Van Der Knapp Disease, Vanishing White Matter Disease, Charcot-Marie-Tooth, CMT, Mct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter Deficiency, Allan-Herndon-Dudley Syndrome, Cadasil, Cockayne Syndrome, Multiple Sulfatase Deficiency, Gangliosidoses, GM2 Gangliosidosis, BPAN, Labrune Syndrome, LCC, Mucopolysaccharidoses, TBCK-Related Intellectual Disability Syndrome
Interventions
Not listed
Lead sponsor
Children's Hospital of Philadelphia
Other
Eligibility
Up to 18 Years
Enrollment
236 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2024
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Nov 10, 2025 · Synced Sep 30, 2026, 3:34 AM EDT
Not listed No phase listed Observational

Gene-STEPS: Shortening Time of Evaluation in Paediatric Epilepsy Services

NCT06082999
View directory record Official record
Conditions
Epilepsy
Interventions
Not listed
Lead sponsor
Great Ormond Street Hospital for Children NHS Foundation Trust
Other
Eligibility
Up to 12 Months
Enrollment
300 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2025
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Oct 13, 2023 · Synced Sep 30, 2026, 3:34 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 13, 2024 · Synced Sep 30, 2026, 3:34 AM EDT