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ClinicalTrials.gov public records Last synced Oct 1, 2026, 11:28 PM EDT

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Showing 25–48 of 56 matching trials from the live ClinicalTrials.gov search.
Filters: Intervention: Whole Exome Sequencing (WES) Clear all
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 Sep 1, 2026 · Synced Oct 1, 2026, 11:28 PM EDT
Not yet recruiting No phase listed Observational

Genetic Investigation of Cancer Predisposition

NCT04620278
View directory record Official record
Conditions
Genetic Predisposition, Cancer
Interventions
DNA or RNA Sequencing
Genetic
Lead sponsor
The University of Texas Health Science Center at San Antonio
Other
Eligibility
Not listed
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2035
U.S. locations
1
States / cities
San Antonio, Texas
Source: ClinicalTrials.gov public record
Updated Jan 6, 2026 · Synced Oct 1, 2026, 11:28 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, 11:28 PM EDT
Recruiting No phase listed Observational

Whole Exome Sequencing in Finding Causative Variants in Germline DNA Samples From Patients With Congestive Heart Failure Receiving Therapy for Breast Cancer

NCT02610426
View directory record Official record
Conditions
Breast Carcinoma
Interventions
Laboratory Biomarker Analysis
Other
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
Not listed
Enrollment
162 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 27, 2026 · Synced Oct 1, 2026, 11:28 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, 11:28 PM EDT
Recruiting No phase listed Observational

Longitudinal Tumor Burden Quantification Using Circulating Tumor DNA in Metastatic Lobular Breast Cancer

NCT06666439
View directory record Official record
Conditions
Metastatic Invasive Lobular Carcinoma (mILC)
Interventions
circulating tumor DNA (ctDNA)
Diagnostic Test
Lead sponsor
Julia Foldi
Other
Eligibility
18 Years and older · Female only
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2029
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jan 20, 2026 · Synced Oct 1, 2026, 11:28 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, 11:28 PM 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 18, 2021 · Synced Oct 1, 2026, 11:28 PM EDT
Suspended No phase listed Observational

Biospecimen Collection in Identifying Genetic Changes in Patients With Breast, Prostate, Colorectal, Liver, or Kidney Cancer or Multiple Myeloma Undergoing Surgery

NCT04955808
View directory record Official record
Conditions
Breast Carcinoma, Colon Carcinoma, Invasive Carcinoma, Kidney Carcinoma, Liver Carcinoma, Malignant Solid Neoplasm, Multiple Myeloma, Prostate Carcinoma
Interventions
Biospecimen Collection, Laboratory Biomarker Analysis
Procedure · Other
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
18 Years and older
Enrollment
2,400 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2026
U.S. locations
1
States / cities
Rockville, Maryland
Source: ClinicalTrials.gov public record
Updated May 13, 2026 · Synced Oct 1, 2026, 11:28 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, 11:28 PM 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 11, 2026 · Synced Oct 1, 2026, 11:28 PM EDT
Recruiting No phase listed Observational

Whole Exome Sequencing in Finding Causative Variants in Germline DNA Samples From Patients With Peripheral Neuropathy Receiving Paclitaxel for Breast Cancer

NCT02610439
View directory record Official record
Conditions
Breast Carcinoma, Neuropathy
Interventions
Laboratory Biomarker Analysis
Other
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
Not listed
Enrollment
575 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 27, 2026 · Synced Oct 1, 2026, 11:28 PM EDT
Completed No phase listed Observational

Genetics of COVID-19 Susceptibility and Manifestations

NCT04371432
View directory record Official record
Conditions
COVID-19, Coronavirus 2019
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
1 Month to 110 Years
Enrollment
721 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2024
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Aug 21, 2026 · Synced Oct 1, 2026, 11:28 PM 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 24, 2015 · Synced Oct 1, 2026, 11:28 PM EDT
Withdrawn No phase listed Observational

Circulating Tumor DNA to Monitor the Efficacy of Total Neoadjuvant Therapy for Rectal Cancer

NCT05356585
View directory record Official record
Conditions
Colorectal Cancer, Rectal Cancer
Interventions
SignateraTM assay
Genetic
Lead sponsor
Case Comprehensive Cancer Center
Other
Eligibility
18 Years and older
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2024
U.S. locations
1
States / cities
Cleveland, Ohio
Source: ClinicalTrials.gov public record
Updated Apr 12, 2024 · Synced Oct 1, 2026, 11:28 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Genetics of Appendix Cancer Study

NCT05734430
View directory record Official record
Conditions
Appendix Cancer, Appendiceal Cancer, Appendiceal Neoplasms, Appendiceal Mucinous Neoplasm, Appendiceal Adenocarcinoma, Appendiceal Carcinoid Tumor, Appendiceal Neoplasm Malignant Secondary, Appendix Adenocarcinoma, Appendix Mucinous Neoplasm, Appendix Tumor, Appendix Cancer Metastatic, Appendix NET, Low-Grade Appendix Mucinous Neoplasm, High Grade Appendix Mucinous Neoplasm, High Grade Appendix Mucinous Adenocarcinoma
Interventions
Genetic profiling, Retrospective tissue procurement
Genetic · Other
Lead sponsor
Andreana Holowatyj, PhD, MSCI
Other
Eligibility
18 Years and older
Enrollment
700 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2034
U.S. locations
1
States / cities
Nashville, Tennessee
Source: ClinicalTrials.gov public record
Updated Apr 18, 2025 · Synced Oct 1, 2026, 11:28 PM 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 27, 2014 · Synced Oct 1, 2026, 11:28 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Newborn Genomic Sequencing Pilot Study

NCT06276348
View directory record Official record
Conditions
Genetic Disease
Interventions
Whole genome sequencing, BeginNGS test, WES
Genetic
Lead sponsor
Rady Pediatric Genomics & Systems Medicine Institute
Other
Eligibility
1 Day to 10 Days
Enrollment
120 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023 – 2024
U.S. locations
1
States / cities
San Diego, California
Source: ClinicalTrials.gov public record
Updated Nov 14, 2024 · Synced Oct 1, 2026, 11:28 PM 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 14, 2023 · Synced Oct 1, 2026, 11:28 PM EDT
Completed No phase listed Observational

Whole-Exome Sequencing (WES) of Cancer Patients

NCT02127359
View directory record Official record
Conditions
Lung Adenocarcinoma, Colon Adenocarcinoma
Interventions
Not listed
Lead sponsor
Dana-Farber Cancer Institute
Other
Eligibility
18 Years and older
Enrollment
244 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2019
U.S. locations
2
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Feb 10, 2021 · Synced Oct 1, 2026, 11:28 PM 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 24, 2026 · Synced Oct 1, 2026, 11:28 PM 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 2, 2024 · Synced Oct 1, 2026, 11:28 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

North Carolina Newborn Exome Sequencing for Universal Screening

NCT02826694
View directory record Official record
Conditions
Metabolism, Inborn Errors, Hearing Loss, Hereditary Disease
Interventions
Well infant, whole exome sequencing, Diagnosed, whole exome sequencing
Genetic
Lead sponsor
University of North Carolina, Chapel Hill
Other
Eligibility
1 Hour to 5 Years
Enrollment
106 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2019
U.S. locations
1
States / cities
Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated Jul 8, 2020 · Synced Oct 1, 2026, 11:28 PM 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 2, 2018 · Synced Oct 1, 2026, 11:28 PM EDT