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ClinicalTrials.gov public records Last synced Sep 7, 2026, 1:51 AM EDT

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Showing 1–24 of 73 matching trials from the live ClinicalTrials.gov search.
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Filters: Intervention: Exome sequencing Clear all
Active, not recruiting No phase listed Observational

Novel Antineuronal Antibodies in Gastrointestinal Motility Disorders

NCT04872439
View directory record Official record
Conditions
Autoimmune Gastrointestinal Dysmotility
Interventions
Blood sample collection
Diagnostic Test
Lead sponsor
Johns Hopkins University
Other
Eligibility
13 Years and older
Enrollment
300 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2026
U.S. locations
1
States / cities
Baltimore, Maryland
Source: ClinicalTrials.gov public record
Updated Jan 6, 2026 · Synced Sep 7, 2026, 1:51 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

Enabling Personalized Medicine Through Exome Sequencing in the U.S. Air Force

NCT03276637
View directory record Official record
Conditions
Healthy Adults, Genetic Predisposition to Disease
Interventions
Whole exome sequencing
Genetic
Lead sponsor
Brigham and Women's Hospital
Other
Eligibility
18 Years and older
Enrollment
105 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2017 – 2020
U.S. locations
3
States / cities
Boston, Massachusetts • Houston, Texas • San Antonio, Texas
Source: ClinicalTrials.gov public record
Updated Oct 1, 2024 · Synced Sep 7, 2026, 1:51 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 5, 2020 · Synced Sep 7, 2026, 1:51 AM EDT
Completed Not applicable Interventional

Clinical Benefit of Using Molecular Profiling to Determine an Individualized Treatment Plan for Patients With High Grade Glioma

NCT03739372
View directory record Official record
Conditions
Glioma, Glioma of Brain, Cancer, Pediatric Cancer, Pediatric Brain Tumor, Astrocytoma, Glioblastoma, Hemispheric
Interventions
Specialized tumor board recommendation
Other
Lead sponsor
University of California, San Francisco
Other
Eligibility
Up to 21 Years
Enrollment
44 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2026
U.S. locations
12
States / cities
San Diego, California • San Francisco, California • Washington D.C., District of Columbia + 9 more
Source: ClinicalTrials.gov public record
Updated Aug 10, 2026 · Synced Sep 7, 2026, 1:51 AM EDT
Recruiting Phase 2 Interventional

A Multicenter Trial to Identify Optimal Atezolizumab Biomarkers in the Setting of Recurrent Glioblastoma. The MOAB Trial

NCT06069726
View directory record Official record
Conditions
Recurrent Glioblastoma
Interventions
Atezolizumab
Drug
Lead sponsor
Duke University
Other
Eligibility
18 Years and older
Enrollment
80 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2028
U.S. locations
4
States / cities
San Francisco, California • Kansas City, Missouri • Durham, North Carolina + 1 more
Source: ClinicalTrials.gov public record
Updated Jul 30, 2026 · Synced Sep 7, 2026, 1:51 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 7, 2026, 1:51 AM EDT
Terminated No phase listed Observational

Circulating Tumor DNA Alterations in Non-small Cell Lung Cancer Patients Treated With Pembrolizumab

NCT04791215
View directory record Official record
Conditions
Non Small Cell Lung Cancer
Interventions
Observational
Other
Lead sponsor
Columbia University
Other
Eligibility
18 Years and older
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2023
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Oct 25, 2024 · Synced Sep 7, 2026, 1:51 AM EDT
Completed No phase listed Observational Accepts healthy volunteers Results available

Prenatal Genetic Diagnosis by Genomic Sequencing

NCT03936101
View directory record Official record
Conditions
Fetal Structural Anomalies
Interventions
Prenatal Genomic Sequencing
Diagnostic Test
Lead sponsor
Columbia University
Other
Eligibility
18 Years and older
Enrollment
1,097 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2024
U.S. locations
5
States / cities
New York, New York • Chapel Hill, North Carolina • Cincinnati, Ohio + 1 more
Source: ClinicalTrials.gov public record
Updated Oct 26, 2025 · Synced Sep 7, 2026, 1:51 AM EDT
Recruiting No phase listed Observational

Whole Exome Sequencing in Finding Causative Variants in Germline DNA Samples From Patients With Hypertension Receiving Bevacizumab for Breast Cancer

NCT02610413
View directory record Official record
Conditions
Breast Carcinoma
Interventions
Laboratory Biomarker Analysis
Other
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
Not listed
Enrollment
354 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2100
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Mar 26, 2026 · Synced Sep 7, 2026, 1:51 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 7, 2026, 1:51 AM EDT
Completed No phase listed Observational

Studying Biomarkers in Tumor Tissue and Blood Samples From Patients With Small Cell Lung Cancer Registered on CALGB-140202

NCT01503619
View directory record Official record
Conditions
Lung Cancer
Interventions
laboratory biomarker analysis
Other
Lead sponsor
Alliance for Clinical Trials in Oncology
Other
Eligibility
18 Years and older
Enrollment
23 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2019
U.S. locations
1
States / cities
Seattle, Washington
Source: ClinicalTrials.gov public record
Updated Aug 16, 2021 · Synced Sep 7, 2026, 1:51 AM EDT
Completed Not applicable Interventional

Genome Sequencing of Human Cancer Tissues

NCT02105545
View directory record Official record
Conditions
Cancer
Interventions
Cancer Treatment Options
Other
Lead sponsor
New Mexico Cancer Research Alliance
Other
Eligibility
Not listed
Enrollment
250 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2023
U.S. locations
1
States / cities
Albuquerque, New Mexico
Source: ClinicalTrials.gov public record
Updated May 21, 2025 · Synced Sep 7, 2026, 1:51 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 7, 2026, 1:51 AM EDT
Completed Not applicable Interventional Results available

North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2

NCT03548779
View directory record Official record
Conditions
Epilepsy; Seizure, Neuromuscular Diseases, Brain Malformation, Intellectual Disability, Autism Spectrum Disorder, Hypotonia, Inborn Errors of Metabolism, Movement Disorders, Genetic Disease, Development Delay, Chromosome Abnormality, Hearing Loss, Dysmorphic Features, Skeletal Dysplasia, Congenital Abnormality, Microcephaly, Macrocephaly
Interventions
Pre-visit prep, usual care + exome seq
Behavioral · Diagnostic Test
Lead sponsor
University of North Carolina, Chapel Hill
Other
Eligibility
0 Years and older
Enrollment
548 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2024
U.S. locations
3
States / cities
Asheville, North Carolina • Chapel Hill, North Carolina • Greenville, North Carolina
Source: ClinicalTrials.gov public record
Updated May 12, 2025 · Synced Sep 7, 2026, 1:51 AM EDT
Completed No phase listed Observational

Study on Moebius Syndrome and Congenital Facial Weakness Disorders

NCT02055248
View directory record Official record
Conditions
Brain Disorders, Birth Defects, Craniofacial Differences
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
2 Years to 80 Years
Enrollment
207 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2020
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Aug 31, 2026 · Synced Sep 7, 2026, 1:51 AM EDT
Enrolling by invitation Not applicable Interventional

Genetics of Differences of Sex Development and Hypospadias

NCT03102554
View directory record Official record
Conditions
Disorders of Sex Development, Hypospadias
Interventions
Return of Genetic Results
Genetic
Lead sponsor
Boston Children's Hospital
Other
Eligibility
Not listed
Enrollment
300 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2027
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jul 21, 2026 · Synced Sep 7, 2026, 1:51 AM EDT
Recruiting Not applicable Interventional

A Synthetic Lethality-Focused Algorithm to Identify Therapeutic Options in Advanced Metastatic Breast Cancer (SYNTHESIS-Breast)

NCT07067138
View directory record Official record
Conditions
Breast Cancer, Breast Carcinoma, Cancer of the Breast, Malignant Neoplasm of Breast
Interventions
Expression Networks for highLIGHting Tumor vulnerabilities (ENLIGHT), TruSight(R) Oncology 500, TruSeq Matched Tumor Normal Whole Exome Sequencing Assay
Device
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
18 Years to 120 Years
Enrollment
175 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2029
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Aug 20, 2026 · Synced Sep 7, 2026, 1:51 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 7, 2026, 1:51 AM EDT
Terminated Phase 2 Interventional

Phase II Study Using Genomic & Proteomic Profiling to Influence Treatments for Patients With Metastatic Breast Cancer

NCT02008994
View directory record Official record
Conditions
Metastatic Breast Cancer
Interventions
Genomic and Proteomic Profiling
Other
Lead sponsor
Sanford Health
Other
Eligibility
18 Years and older
Enrollment
5 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2014
U.S. locations
1
States / cities
Sioux Falls, South Dakota
Source: ClinicalTrials.gov public record
Updated Mar 23, 2015 · Synced Sep 7, 2026, 1:51 AM EDT
Completed No phase listed Observational

Comprehensive Genomic Analysis in Tissue and Blood Samples From Young Patients With Lung Cancer

NCT02273336
View directory record Official record
Conditions
Non-small Cell Lung Cancer, Small Cell Lung Cancer
Interventions
cytology specimen collection procedure, laboratory biomarker analysis
Other
Lead sponsor
University of Southern California
Other
Eligibility
Up to 39 Years
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2020
U.S. locations
2
States / cities
Los Angeles, California • Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Nov 17, 2021 · Synced Sep 7, 2026, 1:51 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 7, 2026, 1:51 AM EDT
Completed Not applicable Interventional Results available

Genomic Sequencing for Childhood Risk and Newborn Illness

NCT02422511
View directory record Official record
Conditions
Hereditary Disease, Genetic Predisposition to Disease
Interventions
Genomic sequencing, Family history report
Genetic · Other
Lead sponsor
Brigham and Women's Hospital
Other
Eligibility
Not listed
Enrollment
1,205 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2021
U.S. locations
2
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Apr 2, 2024 · Synced Sep 7, 2026, 1:51 AM EDT
Enrolling by invitation No phase listed Observational Accepts healthy volunteers

Economic and Clinical Outcomes of (Whole Exome) Sequencing in Tapestry

NCT05045222
View directory record Official record
Conditions
Health Care Utilization
Interventions
Not listed
Lead sponsor
Mayo Clinic
Other
Eligibility
18 Years and older
Enrollment
100,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2031
U.S. locations
2
States / cities
Scottsdale, Arizona • Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated Apr 19, 2026 · Synced Sep 7, 2026, 1:51 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 7, 2026, 1:51 AM EDT