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Showing 25–48 of 24 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Genetic Sequencing Clear all
Completed No phase listed Observational

Adult Patients With Undiagnosed Conditions and Their Responses to Clinically Uncertain Results From Exome Sequencing

NCT03605004
View directory record Official record
Conditions
Undiagnosed Disease
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years to 100 Years
Enrollment
26 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2020
U.S. locations
2
States / cities
Baltimore, Maryland
Source: ClinicalTrials.gov public record
Updated May 10, 2020 · Synced Jul 22, 2026, 2:25 PM EDT
Recruiting No phase listed Observational

Hereditary Spastic Paraplegia Genomic Sequencing Initiative (HSPseq)

NCT05354622
View directory record Official record
Conditions
Hereditary Spastic Paraplegia, Neurodegenerative Diseases, Pediatric Disorder, Spasticity, Muscle, Motor Neuron Disease, Movement Disorders
Interventions
Not listed
Lead sponsor
Boston Children's Hospital
Other
Eligibility
1 Month to 30 Years
Enrollment
200 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2027
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Mar 17, 2026 · Synced Jul 22, 2026, 2:25 PM EDT
Enrolling by invitation Not applicable Interventional

Genome Sequencing in the Intensive Care Unit Population

NCT04848090
View directory record Official record
Conditions
Infant, Newborn, Disease, Genetic Disease
Interventions
Neonate WGS Testing
Diagnostic Test
Lead sponsor
Jerry Vockley, MD, PhD
Other
Eligibility
Up to 1 Year
Enrollment
400 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2027
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jan 8, 2026 · Synced Jul 22, 2026, 2:25 PM 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 Jul 22, 2026, 2:25 PM EDT
Not listed No phase listed Observational

MMRF Molecular Profiling Protocol

NCT02884102
View directory record Official record
Conditions
Multiple Myeloma, Plasma Malignancy
Interventions
genetic sequencing
Genetic
Lead sponsor
Multiple Myeloma Research Foundation
Other
Eligibility
18 Years and older
Enrollment
1,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2026
U.S. locations
19
States / cities
Scottsdale, Arizona • Duarte, California • San Francisco, California + 15 more
Source: ClinicalTrials.gov public record
Updated May 5, 2025 · Synced Jul 22, 2026, 2:25 PM 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 16, 2026 · Synced Jul 22, 2026, 2:25 PM EDT
Completed No phase listed Observational

Biomarkers in Tissue Samples From Patients With High-Risk Wilms Tumor

NCT01118078
View directory record Official record
Conditions
Clear Cell Sarcoma of the Kidney, Recurrent Wilms Tumor and Other Childhood Kidney Tumors, Rhabdoid Tumor of the Kidney, Stage I Wilms Tumor, Stage II Wilms Tumor, Stage III Wilms Tumor, Stage IV Wilms Tumor, Stage V Wilms Tumor
Interventions
DNA methylation analysis, gene expression analysis, microarray analysis, reverse transcriptase-polymerase chain reaction, diagnostic laboratory biomarker analysis
Genetic · Other
Lead sponsor
Children's Oncology Group
Network
Eligibility
Up to 16 Years
Enrollment
185 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2010
U.S. locations
1
States / cities
Monrovia, California
Source: ClinicalTrials.gov public record
Updated May 18, 2016 · Synced Jul 22, 2026, 2:25 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 26, 2021 · Synced Jul 22, 2026, 2:25 PM EDT
Completed No phase listed Observational

Informed Consent for Whole Genome Sequencing: Ideals and Norms Referenced by Early Participants

NCT01369953
View directory record Official record
Conditions
Coronary Artery Disease, Proteus Syndrome, Coffin - Sins Syndrome, Familial Isolated Hyperparathyroidism, Dubouitz Syndrome
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years to 65 Years
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2014
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 25, 2018 · Synced Jul 22, 2026, 2:25 PM 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 12, 2024 · Synced Jul 22, 2026, 2:25 PM EDT
Withdrawn No phase listed Observational

Clinical Sequencing of Cancer and Tissue Repository: OncoGenomics

NCT03027401
View directory record Official record
Conditions
Neoplasms, Adenomatous Polyposis Coli, Neurofibroma, Plexiform, Myelodysplastic Syndromes
Interventions
Not listed
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
Up to 99 Years
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2020
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 7, 2020 · Synced Jul 22, 2026, 2:25 PM EDT
Recruiting No phase listed Observational

Avera Cancer Sequencing and Analytics Protocol (ASAP)

NCT05142033
View directory record Official record
Conditions
Cancer, Cancer Diagnosis, Early Detection of Cancer, Breast Cancer, Lung Cancer, Colon Cancer, GI Cancer, Gynecologic Cancer, Ovarian Cancer, Endometrial Cancer, CNS Cancer, Hematologic Cancer
Interventions
Not listed
Lead sponsor
Avera McKennan Hospital & University Health Center
Other
Eligibility
18 Years and older
Enrollment
25,000 participants
Timeline
2021 – 2026
U.S. locations
6
States / cities
Marshall, Minnesota • Aberdeen, South Dakota • Mitchell, South Dakota + 3 more
Source: ClinicalTrials.gov public record
Updated Mar 26, 2026 · Synced Jul 22, 2026, 2:25 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 Jun 10, 2026 · Synced Jul 22, 2026, 2:25 PM 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 Jul 22, 2026, 2:25 PM EDT
Completed Not applicable Interventional

NYCKidSeq: Incorporating Genomics Into Clinical Care of Diverse NYC Children

NCT03738098
View directory record Official record
Conditions
Genetic Diseases, Inborn, Genetic Predisposition to Disease
Interventions
Standard of Care, GUÍA
Behavioral
Lead sponsor
Icahn School of Medicine at Mount Sinai
Other
Eligibility
Up to 21 Years
Enrollment
650 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2022
U.S. locations
2
States / cities
New York, New York • The Bronx, New York
Source: ClinicalTrials.gov public record
Updated Dec 12, 2023 · Synced Jul 22, 2026, 2:25 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 13, 2024 · Synced Jul 22, 2026, 2:25 PM EDT
Recruiting Not applicable Interventional Accepts healthy volunteers

An Adaptive Clinical Trial of BeginNGS Newborn Screening for Hundreds of Genetic Diseases by Genome Sequencing

NCT06306521
View directory record Official record
Conditions
Genetic Disease
Interventions
BeginNGS Test
Genetic
Lead sponsor
Rady Pediatric Genomics & Systems Medicine Institute
Other
Eligibility
1 Day to 28 Days
Enrollment
10,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2024 – 2029
U.S. locations
1
States / cities
San Diego, California
Source: ClinicalTrials.gov public record
Updated Mar 11, 2024 · Synced Jul 22, 2026, 2:25 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 Jul 15, 2026 · Synced Jul 22, 2026, 2:25 PM 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 Jul 22, 2026, 2:25 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Diagnosis and Treatment of Patients With Inborn Errors of Metabolism

NCT00369421
View directory record Official record
Conditions
Arterial Calcification Due to Deficiency of CD73
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
1 Month to 115 Years
Enrollment
4,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 1978
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 15, 2026 · Synced Jul 22, 2026, 2:25 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

Clinical Implementation of Carrier Status Using Next Generation Sequencing

NCT01902901
View directory record Official record
Conditions
Genetic Disorders
Interventions
Whole Genome Sequencing, Carrier status testing
Genetic
Lead sponsor
Kaiser Permanente
Other
Eligibility
21 Years to 50 Years
Enrollment
384 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2018
U.S. locations
1
States / cities
Portland, Oregon
Source: ClinicalTrials.gov public record
Updated Apr 16, 2019 · Synced Jul 22, 2026, 2:25 PM 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 Jul 22, 2026, 2:25 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Study of ALS Reversals 2: Genetic Analyses

NCT03464903
View directory record Official record
Conditions
Amyotrophic Lateral Sclerosis, Progressive Muscular Atrophy
Interventions
Not listed
Lead sponsor
Duke University
Other
Eligibility
Not listed
Enrollment
26 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2023
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Jan 10, 2024 · Synced Jul 22, 2026, 2:25 PM EDT
Completed No phase listed Observational

Myotubular Myopathy Genetic Testing Study

NCT01817946
View directory record Official record
Conditions
Myotubular Myopathy
Interventions
Genetic Testing
Other
Lead sponsor
Cure CMD
Other
Eligibility
30 Days and older
Enrollment
23 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2017
U.S. locations
1
States / cities
Torrance, California
Source: ClinicalTrials.gov public record
Updated Mar 6, 2018 · Synced Jul 22, 2026, 2:25 PM EDT