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ClinicalTrials.gov public records Last synced Oct 23, 2026, 6:09 AM EDT

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Showing 145–168 of 196 matching trials from the live ClinicalTrials.gov search.
Filters: Intervention: Genome sequencing Clear all
Recruiting No phase listed Observational

UW Undiagnosed Genetic Diseases Program

NCT04586075
View directory record Official record
Conditions
Rare Diseases, Genetic Disease, Undiagnosed Disease
Interventions
Trio Whole Genome Sequencing and Participant-Specific Research
Diagnostic Test
Lead sponsor
University of Wisconsin, Madison
Other
Eligibility
Up to 100 Years
Enrollment
1,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2030
U.S. locations
1
States / cities
Madison, Wisconsin
Source: ClinicalTrials.gov public record
Updated May 29, 2026 · Synced Oct 23, 2026, 6:09 AM EDT
Completed Phase 2 Interventional Results available

Pembrolizumab in Ultramutated and Hypermutated Endometrial Cancer

NCT02899793
View directory record Official record
Conditions
Recurrent Endometrial Cancer
Interventions
Pembrolizumab
Drug
Lead sponsor
Yale University
Other
Eligibility
18 Years to 100 Years · Female only
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2024
U.S. locations
1
States / cities
New Haven, Connecticut
Source: ClinicalTrials.gov public record
Updated Jun 11, 2025 · Synced Oct 23, 2026, 6:09 AM EDT
Terminated No phase listed Observational Results available

Clinical and Genomic Factors for Prognosis of AIDS Primary Effusion Lymphoma

NCT02823327
View directory record Official record
Conditions
AIDS-Related Primary Effusion Lymphoma
Interventions
Laboratory Biomarker Analysis, Medical Chart Review
Genetic · Other
Lead sponsor
AIDS Malignancy Consortium
Network
Eligibility
18 Years and older
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2023
U.S. locations
6
States / cities
La Jolla, California • Los Angeles, California • Miami, Florida + 3 more
Source: ClinicalTrials.gov public record
Updated May 11, 2025 · Synced Oct 23, 2026, 6:09 AM EDT
Active, not recruiting No phase listed Observational

Genetic Overlap Between Anomalies and Cancer in Kids in the Children's Oncology Group: The COG GOBACK Study

NCT05071859
View directory record Official record
Conditions
Congenital Anomaly, Pediatric Cancer
Interventions
Whole Genome Sequencing, Questionnaire Administration, Biospecimen collection, Laboratory Biomarker Analysis
Other
Lead sponsor
Children's Oncology Group
Network
Eligibility
0 Years and older
Enrollment
1,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2027
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated Feb 6, 2026 · Synced Oct 23, 2026, 6:09 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 13, 2025 · Synced Oct 23, 2026, 6:09 AM EDT
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
100 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2027
U.S. locations
1
States / cities
St Louis, Missouri
Source: ClinicalTrials.gov public record
Updated Oct 13, 2026 · Synced Oct 23, 2026, 6:09 AM EDT
Recruiting No phase listed Observational

Molecular Predictors of Cancer in Patients at High Risk of Lung Cancer

NCT00898313
View directory record Official record
Conditions
Lung Cancer
Interventions
comparative genomic hybridization, gene expression microarray analysis, proteomic profiling analysis, biologic sample preservation procedure, nasal brushing, Blood draw, Urine collection, sputum sample, fluorescence bronchoscopy with airway biopsy, fine needle aspiration of the lung, thoracentesis
Genetic · Other · Procedure
Lead sponsor
Vanderbilt-Ingram Cancer Center
Other
Eligibility
18 Years and older
Enrollment
4,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2003 – 2027
U.S. locations
2
States / cities
Nashville, Tennessee
Source: ClinicalTrials.gov public record
Updated Apr 27, 2026 · Synced Oct 23, 2026, 6:09 AM EDT
Completed No phase listed Observational

Feasibility Study of Genomic Sequencing to Find Potential Targets for Personalized Therapy

NCT01869218
View directory record Official record
Conditions
Hematologic Neoplasms
Interventions
Not listed
Lead sponsor
University of Colorado, Denver
Other
Eligibility
18 Years and older
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2021
U.S. locations
1
States / cities
Aurora, Colorado
Source: ClinicalTrials.gov public record
Updated Feb 9, 2022 · Synced Oct 23, 2026, 6:09 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 22, 2025 · Synced Oct 23, 2026, 6:09 AM EDT
Completed No phase listed Observational

Integrated Whole-Genome Analysis of Hematologic Disorders

NCT01108159
View directory record Official record
Conditions
Hematologic Diseases
Interventions
Blood Draw, Skin Biopsy
Procedure
Lead sponsor
Stanford University
Other
Eligibility
18 Years and older
Enrollment
35 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2013
U.S. locations
1
States / cities
Stanford, California
Source: ClinicalTrials.gov public record
Updated May 31, 2018 · Synced Oct 23, 2026, 6:09 AM EDT
Terminated Not applicable Interventional

Personalized Cancer Therapy for Patients With Metastatic Medullary Thyroid or Metastatic Colon Cancer

NCT02363647
View directory record Official record
Conditions
Medullary Thyroid Cancer, Colon Cancer
Interventions
Tumor Genomic Analysis
Other
Lead sponsor
Icahn School of Medicine at Mount Sinai
Other
Eligibility
18 Years and older
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2022
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Aug 31, 2022 · Synced Oct 23, 2026, 6:09 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 Oct 23, 2026, 6:09 AM EDT
Active, not recruiting Not applicable Interventional

Hydrops: Diagnosing & Redefining Outcomes With Precision Study

NCT03412760
View directory record Official record
Conditions
Hydrops Fetalis, Birth Defect, Fetal Anomaly
Interventions
Exome sequencing
Diagnostic Test
Lead sponsor
University of California, San Francisco
Other
Eligibility
18 Years to 55 Years
Enrollment
500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2027
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated Apr 17, 2026 · Synced Oct 23, 2026, 6:09 AM EDT
Recruiting No phase listed Observational

cfDNA 5mC/5hmC Biomarkers to Predict Chemotherapy Response in Metastatic Colorectal Cancer

NCT07224815
View directory record Official record
Conditions
CRC (Colorectal Cancer)
Interventions
cfDNA 5mC/5hmC Sequencing (EpiCORE Discovery Phase), EpiCORE Assay (Targeted Sequencing / qPCR Validation)
Diagnostic Test
Lead sponsor
City of Hope Medical Center
Other
Eligibility
18 Years and older
Enrollment
600 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2028
U.S. locations
1
States / cities
Duarte, California
Source: ClinicalTrials.gov public record
Updated Jul 7, 2026 · Synced Oct 23, 2026, 6:09 AM EDT
Recruiting Not applicable Interventional

TCF-001 TRACK (Target Rare Cancer Knowledge) Study

NCT04504604
View directory record Official record
Conditions
Rare Cancers, Cholangiocarcinoma, Cancer of Unknown Primary Site
Interventions
FoundationOne CDx and FoundationOne Liquid CDx
Diagnostic Test
Lead sponsor
TargetCancer Foundation
Other
Eligibility
18 Years and older
Enrollment
400 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2028
U.S. locations
1
States / cities
Cambridge, Massachusetts
Source: ClinicalTrials.gov public record
Updated May 26, 2026 · Synced Oct 23, 2026, 6:09 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 Oct 23, 2026, 6:09 AM EDT
Completed Not applicable Interventional

A Pilot Study Utilizing Proteomic and Genomic Profiling for Patients With Metastatic Breast Cancer

NCT01919749
View directory record Official record
Conditions
Metastatic Breast Cancer
Interventions
treated recommended
Other
Lead sponsor
Translational Drug Development
Other
Eligibility
18 Years and older
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2016
U.S. locations
2
States / cities
Scottsdale, Arizona • Fairfax, Virginia
Source: ClinicalTrials.gov public record
Updated Mar 28, 2023 · Synced Oct 23, 2026, 6:09 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 9, 2026 · Synced Oct 23, 2026, 6:09 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Helix Research Network

NCT06057181
View directory record Official record
Conditions
Genetic Predisposition to Disease, Genetics Disease
Interventions
Exome sequencing
Genetic
Lead sponsor
Helix, Inc
Industry
Eligibility
18 Years and older
Enrollment
2,000,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2036
U.S. locations
14
States / cities
Fort Wayne, Indiana • Bloomington, Minnesota • Omaha, Nebraska + 11 more
Source: ClinicalTrials.gov public record
Updated Mar 23, 2026 · Synced Oct 23, 2026, 6:09 AM EDT
Active, not recruiting No phase listed Observational

VIGOR: Virtual Genome Center for Infant Health

NCT05205356
View directory record Official record
Conditions
Genetics Disease, Genetics/Birth Defects, Genetic Predisposition to Disease
Interventions
Not listed
Lead sponsor
Boston Children's Hospital
Other
Eligibility
0 Days to 99 Years
Enrollment
631 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2027
U.S. locations
10
States / cities
Mobile, Alabama • Miami, Florida • Boston, Massachusetts + 6 more
Source: ClinicalTrials.gov public record
Updated Jul 10, 2026 · Synced Oct 23, 2026, 6:09 AM EDT
Terminated No phase listed Observational

A Clinical Test for the Treatment of Multifocal Lung Cancers Using Genome Sequencing

NCT02705404
View directory record Official record
Conditions
Lung Neoplasms, Carcinoma Non-small-cell Lung
Interventions
Multifocal Tissue Banking
Genetic
Lead sponsor
Mayo Clinic
Other
Eligibility
18 Years and older
Enrollment
8 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2021
U.S. locations
1
States / cities
Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated Apr 14, 2022 · Synced Oct 23, 2026, 6:09 AM EDT
Recruiting Not applicable Interventional

CHAMP Lung Cancer Screening Program

NCT07572773
View directory record Official record
Conditions
Lung Cancer, Early Lung Cancer Detection
Interventions
DELFI Diagnostics FirstLook Lung Cancer Screening Blood Test, Low-Does CT Scan
Diagnostic Test
Lead sponsor
Jill Kolesar
Other
Eligibility
50 Years to 77 Years
Enrollment
300 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2028
U.S. locations
3
States / cities
Iowa City, Iowa • Waterloo, Iowa
Source: ClinicalTrials.gov public record
Updated Jun 16, 2026 · Synced Oct 23, 2026, 6:09 AM EDT
Completed Not applicable Interventional

NCGENES: North Carolina Clinical Genomic Evaluation by NextGen Exome Sequencing

NCT01969370
View directory record Official record
Conditions
Cancer, Cardiovascular Disease, Neurologic Dysfunction, Congenital Abnormalities, Hearing Loss
Interventions
Experimental
Behavioral
Lead sponsor
University of North Carolina, Chapel Hill
Other
Eligibility
Not listed
Enrollment
645 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2017
U.S. locations
1
States / cities
Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated May 3, 2017 · Synced Oct 23, 2026, 6:09 AM 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 23, 2026, 6:09 AM EDT