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ClinicalTrials.gov public records Last synced Oct 1, 2026, 9:30 PM EDT

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Showing 25–48 of 82 matching trials from the live ClinicalTrials.gov search.
Filters: Intervention: Whole genome sequencing (WGS) Clear all
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 10, 2021 · Synced Oct 1, 2026, 9:30 PM 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 14, 2026 · Synced Oct 1, 2026, 9:30 PM EDT
Terminated No phase listed Observational Accepts healthy volunteers

Malignant Hyperthermia Registry and Genetic Testing

NCT02964481
View directory record Official record
Conditions
Malignant Hyperthermia
Interventions
Whole exome sequencing
Genetic
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
Not listed
Enrollment
64 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2015 – 2017
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Sep 3, 2020 · Synced Oct 1, 2026, 9:30 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 10, 2026 · Synced Oct 1, 2026, 9:30 PM EDT
Recruiting Not applicable Interventional Accepts healthy volunteers

MicroRNAs as Biomarkers in First Episode Schizophrenia

NCT07703670
View directory record Official record
Conditions
Schizophrenia Disorder, Schizophreniform Disorder, Schizoaffective Disorder, Psychosis Not Otherwise Specified (NOS)
Interventions
Plasma NDE miRNA Sequencing, Whole Genome Sequencing
Diagnostic Test · Genetic
Lead sponsor
Northwell Health
Other
Eligibility
15 Years to 40 Years
Enrollment
160 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2026 – 2031
U.S. locations
1
States / cities
Glen Oaks, New York
Source: ClinicalTrials.gov public record
Updated Jul 14, 2026 · Synced Oct 1, 2026, 9:30 PM 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 23, 2017 · Synced Oct 1, 2026, 9:30 PM 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 Oct 1, 2026, 9:30 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 17, 2026 · Synced Oct 1, 2026, 9:30 PM EDT
Completed No phase listed Observational

United States Hypophosphatasia Molecular Research Center

NCT05062629
View directory record Official record
Conditions
Hypophosphatasia
Interventions
Whole Genome Sequencing
Genetic
Lead sponsor
Children's Mercy Hospital Kansas City
Other
Eligibility
Not listed
Enrollment
29 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2026
U.S. locations
1
States / cities
Kansas City, Missouri
Source: ClinicalTrials.gov public record
Updated May 19, 2026 · Synced Oct 1, 2026, 9:30 PM EDT
Recruiting No phase listed Observational

Genetics of Epilepsy and Related Disorders

NCT01858285
View directory record Official record
Conditions
Epilepsy, Epileptic Encephalopathy
Interventions
Exome and/or whole genome sequencing
Genetic
Lead sponsor
Boston Children's Hospital
Other
Eligibility
Not listed
Enrollment
5,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2030
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jan 9, 2026 · Synced Oct 1, 2026, 9:30 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Genetics of Congenital Heart Disease

NCT01192048
View directory record Official record
Conditions
Congenital Heart Disease
Interventions
Blood Sample Collection
Other
Lead sponsor
Nationwide Children's Hospital
Other
Eligibility
Not listed
Enrollment
5,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2009 – 2030
U.S. locations
1
States / cities
Columbus, Ohio
Source: ClinicalTrials.gov public record
Updated Apr 7, 2026 · Synced Oct 1, 2026, 9:30 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 14, 2021 · Synced Oct 1, 2026, 9:30 PM 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 12, 2025 · Synced Oct 1, 2026, 9:30 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 16, 2025 · Synced Oct 1, 2026, 9:30 PM EDT
Enrolling by invitation No phase listed Observational

Prospective Healthcare-Associated Links in Transmission of Nontuberculous Mycobacteria

NCT05686837
View directory record Official record
Conditions
Cystic Fibrosis, Nontuberculous Mycobacterial Pulmonary Infection
Interventions
Not listed
Lead sponsor
University of North Carolina, Chapel Hill
Other
Eligibility
1 Month to 99 Years
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2027
U.S. locations
7
States / cities
Denver, Colorado • Baltimore, Maryland • Austin, Texas + 4 more
Source: ClinicalTrials.gov public record
Updated Oct 20, 2025 · Synced Oct 1, 2026, 9:30 PM 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 Oct 1, 2026, 9:30 PM 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 Oct 1, 2026, 9:30 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 27, 2021 · Synced Oct 1, 2026, 9:30 PM EDT
Recruiting Not applicable Interventional Accepts healthy volunteers

Genetic Inclusion by Virtual Evaluation

NCT05318222
View directory record Official record
Conditions
Birth Defects, Multiple Congenital Anomaly, Neurodevelopmental Disorders
Interventions
Whole genome sequencing (WGS)
Diagnostic Test
Lead sponsor
Baylor College of Medicine
Other
Eligibility
1 Day to 18 Years
Enrollment
200 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2027
U.S. locations
1
States / cities
Edinburg, Texas
Source: ClinicalTrials.gov public record
Updated Oct 1, 2026 · Synced Oct 1, 2026, 9:30 PM EDT
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 6, 2019 · Synced Oct 1, 2026, 9:30 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 18, 2020 · Synced Oct 1, 2026, 9:30 PM 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 14, 2026 · Synced Oct 1, 2026, 9:30 PM EDT
Recruiting No phase listed Observational

Whole Exome and Whole Genome Sequencing for Genotyping of Inherited and Congenital Eye Conditions

NCT02077894
View directory record Official record
Conditions
Genetic Eye Disease
Interventions
Not listed
Lead sponsor
National Eye Institute (NEI)
NIH
Eligibility
1 Day to 120 Years
Enrollment
2,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2029
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 16, 2026 · Synced Oct 1, 2026, 9:30 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 14, 2024 · Synced Oct 1, 2026, 9:30 PM EDT