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ClinicalTrials.gov public records Last synced Sep 29, 2026, 4:08 AM EDT

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Showing 1–19 of 19 matching trials from the live ClinicalTrials.gov search.
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Filters: Intervention: Exome and/or whole genome sequencing Clear all
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 29, 2026, 4:08 AM EDT
Completed No phase listed Observational

Genomic Basis of Neurodevelopmental and Brain Outcomes in Congenital Heart Disease (CHD Brain and Genes)

NCT03070197
View directory record Official record
Conditions
Heart Disease Congenital
Interventions
Exposure of interest: Brain MRI, Exposure of interest: neurodevelopmental assessments
Other
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
8 Years and older
Enrollment
196 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2020
U.S. locations
8
States / cities
Los Angeles, California • San Francisco, California • New Haven, Connecticut + 5 more
Source: ClinicalTrials.gov public record
Updated Aug 12, 2020 · Synced Sep 29, 2026, 4:08 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 29, 2026, 4:08 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 29, 2026, 4:08 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 29, 2026, 4:08 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

A Safety Study Assessing the Effects of Receiving Genome Sequencing Results

NCT01692223
View directory record Official record
Conditions
History of Cancer
Interventions
qualitative interviews
Behavioral
Lead sponsor
Memorial Sloan Kettering Cancer Center
Other
Eligibility
18 Years and older
Enrollment
8 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2012 – 2018
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Aug 1, 2018 · Synced Sep 29, 2026, 4:08 AM EDT
Not listed No phase listed Observational

Molecular Testing of Cancer by Integrated Genomic, Transcriptomic, and Proteomic Analysis

NCT02213822
View directory record Official record
Conditions
Solid Tumors, Hematological Malignancies
Interventions
Molecular Analysis of Cancer
Other
Lead sponsor
Rhode Island Hospital
Other
Eligibility
18 Years and older
Enrollment
500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2015
U.S. locations
3
States / cities
East Greenwich, Rhode Island • Providence, Rhode Island
Source: ClinicalTrials.gov public record
Updated Aug 26, 2014 · Synced Sep 29, 2026, 4:08 AM EDT
Active, not recruiting No phase listed Observational

Molecular Profiling in Tissue Samples From Patients With Cancer Who Are Exceptional Responders to Treatment

NCT02243592
View directory record Official record
Conditions
Malignant Neoplasm
Interventions
Laboratory Biomarker Analysis
Other
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
18 Years and older
Enrollment
170 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2027
U.S. locations
73
States / cities
Duarte, California • Fresno, California • Oakland, California + 58 more
Source: ClinicalTrials.gov public record
Updated Apr 16, 2026 · Synced Sep 29, 2026, 4:08 AM 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 Sep 29, 2026, 4:08 AM 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 6, 2026 · Synced Sep 29, 2026, 4:08 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 29, 2026, 4:08 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 Sep 23, 2026 · Synced Sep 29, 2026, 4:08 AM EDT
Completed Not applicable Interventional

The VetSeq Study: a Pilot Study of Genome Sequencing in Veteran Care

NCT03380819
View directory record Official record
Conditions
Rare Diseases, Genetic Disease
Interventions
Genome sequencing
Diagnostic Test
Lead sponsor
VA Boston Healthcare System
Federal
Eligibility
Not listed
Enrollment
2 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2022
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Apr 25, 2023 · Synced Sep 29, 2026, 4:08 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 29, 2026, 4:08 AM 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 8, 2026 · Synced Sep 29, 2026, 4:08 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 29, 2026, 4:08 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 29, 2026, 4:08 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 29, 2026, 4:08 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 29, 2026, 4:08 AM EDT